Canonical Allele Identifier: CA9870232

Gene: HNF4A

Linked Data

• ClinVar Variation Id: 1098751
• ClinVar RCV Id: RCV001420747 ; RCV001796486
• dbSNP Id: rs764196059
• ExAC: 20:43042367 G / A
• gnomAD v2: 20-43042367-G-A
• gnomAD v3: 20-44413727-G-A
• gnomAD v4: 20-44413727-G-A
• MyVariant Identifiers: chr20:g.43042367G>A (hg19) ; chr20:g.44413727G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44413727G>A , CM000682.2:g.44413727G>A	GRCh38
NC_000020.10:g.43042367G>A , CM000682.1:g.43042367G>A	GRCh37
NC_000020.9:g.42475781G>A	NCBI36
NG_009818.1:g.62927G>A , LRG_483:g.62927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.353G>A MANE Select	ENSP00000315180.4:p.Arg118Gln
ENST00000316099.10:c.419G>A	ENSP00000312987.3:p.Arg140Gln
ENST00000619550.5:c.393G>A
ENST00000683148.1:n.395G>A
ENST00000683657.1:n.1543G>A
ENST00000316099.9:c.419G>A	ENSP00000312987.3:p.Arg140Gln
ENST00000316099.8:c.419G>A	ENSP00000312987.3:p.Arg140Gln
ENST00000316673.8:c.353G>A	ENSP00000315180.4:p.Arg118Gln
ENST00000372920.1:c.*186G>A	ENSP00000362011.1:n.*186G>A
ENST00000415691.2:c.419G>A	ENSP00000412111.1:p.Arg140Gln
ENST00000443598.6:c.419G>A	ENSP00000410911.2:p.Arg140Gln
ENST00000457232.5:c.353G>A	ENSP00000396216.1:p.Arg118Gln
ENST00000609795.5:c.353G>A	ENSP00000476609.1:p.Arg118Gln
ENST00000619550.4:c.344G>A	ENSP00000481331.1:p.Arg115Gln
NM_000457.4:c.419G>A , LRG_483t2:c.419G>A	NP_000448.3:p.Arg140Gln
NM_001030003.2:c.353G>A	NP_001025174.1:p.Arg118Gln
NM_001030004.2:c.353G>A	NP_001025175.1:p.Arg118Gln
NM_001258355.1:c.398G>A	NP_001245284.1:p.Arg133Gln
NM_001287182.1:c.344G>A	NP_001274111.1:p.Arg115Gln
NM_001287183.1:c.344G>A , LRG_483t3:c.344G>A	NP_001274112.1:p.Arg115Gln
NM_001287184.1:c.344G>A	NP_001274113.1:p.Arg115Gln
NM_175914.4:c.353G>A , LRG_483t1:c.353G>A	NP_787110.2:p.Arg118Gln
NM_178849.2:c.419G>A	NP_849180.1:p.Arg140Gln
NM_178850.2:c.419G>A	NP_849181.1:p.Arg140Gln
XM_005260407.2:c.536G>A	XP_005260464.1:p.Arg179Gln
XM_011528797.1:c.467G>A	XP_011527099.1:p.Arg156Gln
XM_011528798.1:c.467G>A	XP_011527100.1:p.Arg156Gln
XM_005260407.4:c.536G>A	XP_005260464.1:p.Arg179Gln
NM_001030003.3:c.353G>A	NP_001025174.1:p.Arg118Gln
NM_001030004.3:c.353G>A	NP_001025175.1:p.Arg118Gln
NM_001258355.2:c.398G>A	NP_001245284.1:p.Arg133Gln
NM_001287182.2:c.344G>A	NP_001274111.1:p.Arg115Gln
NM_001287184.2:c.344G>A	NP_001274113.1:p.Arg115Gln
NM_178849.3:c.419G>A	NP_849180.1:p.Arg140Gln
NM_178850.3:c.419G>A	NP_849181.1:p.Arg140Gln
NM_000457.5:c.419G>A	NP_000448.3:p.Arg140Gln
NM_000457.6:c.419G>A	NP_000448.3:p.Arg140Gln
NM_001287183.2:c.344G>A	NP_001274112.1:p.Arg115Gln
NM_175914.5:c.353G>A MANE Select	NP_787110.2:p.Arg118Gln