Ensembl ID:
hepatocyte nuclear factor 4-alpha [Source:RefSeq peptide;Acc:NP_919349]
Human Orthologue:
Human Description:
hepatocyte nuclear factor 4, alpha [Source:HGNC Symbol;Acc:5024]
Mouse Orthologue:
Mouse Description:
hepatic nuclear factor 4, alpha Gene [Source:MGI Symbol;Acc:MGI:109128]


There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa43991 Splice Site, Nonsense Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
We currently estimate that this allele will be available during 2018.
C > T
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000028236 Splice Site, Nonsense 216 463 5 11
ENSDART00000122938 Splice Site, Nonsense 180 427 6 11
ENSDART00000124103 Splice Site None 42 6 11
ENSDART00000138907 Splice Site, Nonsense 194 274 5 7
ENSDART00000145426 Splice Site, Nonsense 216 463 5 10

The following transcripts of ENSDARG00000021494 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 23 (position 26148100)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 25934220
GRCz11 23 25860761
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
Flanking Sequence:
Associated Phenotype:
Not determined


This gene's human homologue has been identified in the following GWAS studies:

  • C-reactive protein: Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women. (View Study)
  • C-reactive protein: Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. (View Study)
  • Triglycerides: Biological, clinical and population relevance of 95 loci for blood lipids. (View Study)
  • Triglycerides: Common variants at 30 loci contribute to polygenic dyslipidemia. (View Study)
  • Type 2 diabetes: Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. (View Study)
  • Type 2 diabetes: Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. (View Study)
  • Ulcerative colitis: Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. (View Study)
  • Ulcerative colitis: Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (View Study)

(GWAS data comes from


If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below: