Canonical Allele Identifier: CA409105706
Gene: HNF4A HGNC NCBI

Linked Data

dbSNP Id: rs1365082353
gnomAD v2: 20-43042405-A-G
gnomAD v4: 20-44413765-A-G
MyVariant Identifiers: chr20:g.43042405A>G (hg19) chr20:g.44413765A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44413765A>G , CM000682.2:g.44413765A>G GRCh38
NC_000020.10:g.43042405A>G , CM000682.1:g.43042405A>G GRCh37
NC_000020.9:g.42475819A>G NCBI36
NG_009818.1:g.62965A>G , LRG_483:g.62965A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.391A>G MANE Select ENSP00000315180.4:p.Asn131Asp
ENST00000316099.10:c.457A>G ENSP00000312987.3:p.Asn153Asp
ENST00000619550.5:c.431A>G
ENST00000683148.1:n.433A>G
ENST00000683657.1:n.1581A>G
ENST00000316099.9:c.457A>G ENSP00000312987.3:p.Asn153Asp
ENST00000316099.8:c.457A>G ENSP00000312987.3:p.Asn153Asp
ENST00000316673.8:c.391A>G ENSP00000315180.4:p.Asn131Asp
ENST00000372920.1:c.*224A>G ENSP00000362011.1:n.*224A>G
ENST00000415691.2:c.457A>G ENSP00000412111.1:p.Asn153Asp
ENST00000443598.6:c.457A>G ENSP00000410911.2:p.Asn153Asp
ENST00000457232.5:c.391A>G ENSP00000396216.1:p.Asn131Asp
ENST00000609795.5:c.391A>G ENSP00000476609.1:p.Asn131Asp
ENST00000619550.4:c.382A>G ENSP00000481331.1:p.Asn128Asp
NM_000457.4:c.457A>G , LRG_483t2:c.457A>G NP_000448.3:p.Asn153Asp
NM_001030003.2:c.391A>G NP_001025174.1:p.Asn131Asp
NM_001030004.2:c.391A>G NP_001025175.1:p.Asn131Asp
NM_001258355.1:c.436A>G NP_001245284.1:p.Asn146Asp
NM_001287182.1:c.382A>G NP_001274111.1:p.Asn128Asp
NM_001287183.1:c.382A>G , LRG_483t3:c.382A>G NP_001274112.1:p.Asn128Asp
NM_001287184.1:c.382A>G NP_001274113.1:p.Asn128Asp
NM_175914.4:c.391A>G , LRG_483t1:c.391A>G NP_787110.2:p.Asn131Asp
NM_178849.2:c.457A>G NP_849180.1:p.Asn153Asp
NM_178850.2:c.457A>G NP_849181.1:p.Asn153Asp
XM_005260407.2:c.574A>G XP_005260464.1:p.Asn192Asp
XM_011528797.1:c.505A>G XP_011527099.1:p.Asn169Asp
XM_011528798.1:c.505A>G XP_011527100.1:p.Asn169Asp
XM_005260407.4:c.574A>G XP_005260464.1:p.Asn192Asp
NM_001030003.3:c.391A>G NP_001025174.1:p.Asn131Asp
NM_001030004.3:c.391A>G NP_001025175.1:p.Asn131Asp
NM_001258355.2:c.436A>G NP_001245284.1:p.Asn146Asp
NM_001287182.2:c.382A>G NP_001274111.1:p.Asn128Asp
NM_001287184.2:c.382A>G NP_001274113.1:p.Asn128Asp
NM_178849.3:c.457A>G NP_849180.1:p.Asn153Asp
NM_178850.3:c.457A>G NP_849181.1:p.Asn153Asp
NM_000457.5:c.457A>G NP_000448.3:p.Asn153Asp
NM_000457.6:c.457A>G NP_000448.3:p.Asn153Asp
NM_001287183.2:c.382A>G NP_001274112.1:p.Asn128Asp
NM_175914.5:c.391A>G MANE Select NP_787110.2:p.Asn131Asp
Search 100 bp 5'
Search 100 bp 3'