Canonical Allele Identifier: CA409107501

Gene: HNF4A

Linked Data

• dbSNP Id: rs1188828736
• gnomAD v3: 20-44419810-T-C
• gnomAD v4: 20-44419810-T-C
• MyVariant Identifiers: chr20:g.43048450T>C (hg19) ; chr20:g.44419810T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44419810T>C , CM000682.2:g.44419810T>C	GRCh38
NC_000020.10:g.43048450T>C , CM000682.1:g.43048450T>C	GRCh37
NC_000020.9:g.42481864T>C	NCBI36
NG_009818.1:g.69010T>C , LRG_483:g.69010T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.760T>C MANE Select	ENSP00000315180.4:p.Phe254Leu
ENST00000316099.10:c.826T>C	ENSP00000312987.3:p.Phe276Leu
ENST00000619550.5:c.800T>C
ENST00000683148.1:n.802T>C
ENST00000683657.1:n.1950T>C
ENST00000316099.9:c.826T>C	ENSP00000312987.3:p.Phe276Leu
ENST00000316099.8:c.826T>C	ENSP00000312987.3:p.Phe276Leu
ENST00000316673.8:c.760T>C	ENSP00000315180.4:p.Phe254Leu
ENST00000372920.1:c.*593T>C	ENSP00000362011.1:n.*593T>C
ENST00000415691.2:c.826T>C	ENSP00000412111.1:p.Phe276Leu
ENST00000443598.6:c.826T>C	ENSP00000410911.2:p.Phe276Leu
ENST00000457232.5:c.760T>C	ENSP00000396216.1:p.Phe254Leu
ENST00000609795.5:c.760T>C	ENSP00000476609.1:p.Phe254Leu
ENST00000619550.4:c.751T>C	ENSP00000481331.1:p.Phe251Leu
NM_000457.4:c.826T>C , LRG_483t2:c.826T>C	NP_000448.3:p.Phe276Leu
NM_001030003.2:c.760T>C	NP_001025174.1:p.Phe254Leu
NM_001030004.2:c.760T>C	NP_001025175.1:p.Phe254Leu
NM_001258355.1:c.805T>C	NP_001245284.1:p.Phe269Leu
NM_001287182.1:c.751T>C	NP_001274111.1:p.Phe251Leu
NM_001287183.1:c.751T>C , LRG_483t3:c.751T>C	NP_001274112.1:p.Phe251Leu
NM_001287184.1:c.751T>C	NP_001274113.1:p.Phe251Leu
NM_175914.4:c.760T>C , LRG_483t1:c.760T>C	NP_787110.2:p.Phe254Leu
NM_178849.2:c.826T>C	NP_849180.1:p.Phe276Leu
NM_178850.2:c.826T>C	NP_849181.1:p.Phe276Leu
XM_005260407.2:c.943T>C	XP_005260464.1:p.Phe315Leu
XM_011528797.1:c.874T>C	XP_011527099.1:p.Phe292Leu
XM_011528798.1:c.874T>C	XP_011527100.1:p.Phe292Leu
XM_005260407.4:c.943T>C	XP_005260464.1:p.Phe315Leu
NM_001030003.3:c.760T>C	NP_001025174.1:p.Phe254Leu
NM_001030004.3:c.760T>C	NP_001025175.1:p.Phe254Leu
NM_001258355.2:c.805T>C	NP_001245284.1:p.Phe269Leu
NM_001287182.2:c.751T>C	NP_001274111.1:p.Phe251Leu
NM_001287184.2:c.751T>C	NP_001274113.1:p.Phe251Leu
NM_178849.3:c.826T>C	NP_849180.1:p.Phe276Leu
NM_178850.3:c.826T>C	NP_849181.1:p.Phe276Leu
NM_000457.5:c.826T>C	NP_000448.3:p.Phe276Leu
NM_000457.6:c.826T>C	NP_000448.3:p.Phe276Leu
NM_001287183.2:c.751T>C	NP_001274112.1:p.Phe251Leu
NM_175914.5:c.760T>C MANE Select	NP_787110.2:p.Phe254Leu