Canonical Allele Identifier: CA120226
Gene: HNF4A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9216
ClinVar RCV Id: RCV000009796
dbSNP Id: rs137853338

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44424243T>G , CM000682.2:g.44424243T>G GRCh38
NC_000020.10:g.43052883T>G , CM000682.1:g.43052883T>G GRCh37
NC_000020.9:g.42486297T>G NCBI36
NG_009818.1:g.73443T>G , LRG_483:g.73443T>G

Transcript Alleles

HGVS Amino-acid change
NM_000457.4:c.1118T>G , LRG_483t2:c.1118T>G NP_000448.3:p.Met373Arg
NM_001030003.2:c.1052T>G VV NP_001025174.1:p.Met351Arg
NM_001030004.2:c.1052T>G VV NP_001025175.1:p.Met351Arg
NM_001258355.1:c.1097T>G VV NP_001245284.1:p.Met366Arg
NM_001287182.1:c.1043T>G VV NP_001274111.1:p.Met348Arg
NM_001287183.1:c.1043T>G , LRG_483t3:c.1043T>G NP_001274112.1:p.Met348Arg
NM_001287184.1:c.1043T>G VV NP_001274113.1:p.Met348Arg
NM_175914.4:c.1052T>G , LRG_483t1:c.1052T>G NP_787110.2:p.Met351Arg
NM_178849.2:c.1118T>G VV NP_849180.1:p.Met373Arg
NM_178850.2:c.1118T>G VV NP_849181.1:p.Met373Arg
XM_005260407.2:c.1235T>G XP_005260464.1:p.Met412Arg
XM_011528797.1:c.1166T>G XP_011527099.1:p.Met389Arg
XM_011528798.1:c.1166T>G XP_011527100.1:p.Met389Arg
XM_005260407.4:c.1235T>G
ENST00000316099.8:c.1118T>G ENSP00000312987.3:p.Met373Arg
ENST00000316673.8:c.1052T>G ENSP00000315180.4:p.Met351Arg
ENST00000372920.1:c.*885T>G ENSP00000362011.1:p.=
ENST00000415691.2:c.1118T>G ENSP00000412111.1:p.Met373Arg
ENST00000443598.6:c.1118T>G ENSP00000410911.2:p.Met373Arg
ENST00000457232.5:c.1052T>G ENSP00000396216.1:p.Met351Arg
ENST00000609795.5:c.1052T>G ENSP00000476609.1:p.Met351Arg
ENST00000619550.4:c.1043T>G ENSP00000481331.1:p.Met348Arg