Canonical Allele Identifier: CA213981
Gene: HNF4A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36360
ClinVar RCV Id: RCV000030030
dbSNP Id: rs193922477

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44419818G>C , CM000682.2:g.44419818G>C GRCh38
NC_000020.9:g.42481872G>C NCBI36
NC_000020.10:g.43048458G>C , CM000682.1:g.43048458G>C GRCh37
NG_009818.1:g.69018G>C , LRG_483:g.69018G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000316099.8:c.834G>C ENSP00000312987.3:p.Glu278Asp
ENST00000316673.8:c.768G>C ENSP00000315180.4:p.Glu256Asp
ENST00000372920.1:c.*601G>C ENSP00000362011.1:p.=
ENST00000415691.2:c.834G>C ENSP00000412111.1:p.Glu278Asp
ENST00000443598.6:c.834G>C ENSP00000410911.2:p.Glu278Asp
ENST00000457232.5:c.768G>C ENSP00000396216.1:p.Glu256Asp
ENST00000609795.5:c.768G>C ENSP00000476609.1:p.Glu256Asp
ENST00000619550.4:c.759G>C ENSP00000481331.1:p.Glu253Asp
NM_000457.4:c.834G>C , LRG_483t2:c.834G>C NP_000448.3:p.Glu278Asp
NM_001030003.2:c.768G>C VV NP_001025174.1:p.Glu256Asp
NM_001030004.2:c.768G>C VV NP_001025175.1:p.Glu256Asp
NM_001258355.1:c.813G>C VV NP_001245284.1:p.Glu271Asp
NM_001287182.1:c.759G>C VV NP_001274111.1:p.Glu253Asp
NM_001287183.1:c.759G>C , LRG_483t3:c.759G>C NP_001274112.1:p.Glu253Asp
NM_001287184.1:c.759G>C VV NP_001274113.1:p.Glu253Asp
NM_175914.4:c.768G>C , LRG_483t1:c.768G>C NP_787110.2:p.Glu256Asp
NM_178849.2:c.834G>C VV NP_849180.1:p.Glu278Asp
NM_178850.2:c.834G>C VV NP_849181.1:p.Glu278Asp
XM_005260407.2:c.951G>C XP_005260464.1:p.Glu317Asp
XM_011528797.1:c.882G>C XP_011527099.1:p.Glu294Asp
XM_011528798.1:c.882G>C XP_011527100.1:p.Glu294Asp