Canonical Allele Identifier: CA409107327

Gene: HNF4A

Linked Data

• ClinVar Variation Id: 2691720
• ClinVar RCV Id: RCV003486532 ; RCV003575116
• gnomAD v4: 20-44419727-A-T
• MyVariant Identifiers: chr20:g.43048367A>T (hg19) ; chr20:g.44419727A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44419727A>T , CM000682.2:g.44419727A>T	GRCh38
NC_000020.10:g.43048367A>T , CM000682.1:g.43048367A>T	GRCh37
NC_000020.9:g.42481781A>T	NCBI36
NG_009818.1:g.68927A>T , LRG_483:g.68927A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000316673.9:c.677A>T MANE Select	ENSP00000315180.4:p.Asp226Val
ENST00000316099.10:c.743A>T	ENSP00000312987.3:p.Asp248Val
ENST00000619550.5:c.717A>T
ENST00000683148.1:n.719A>T
ENST00000683657.1:n.1867A>T
ENST00000316099.9:c.743A>T	ENSP00000312987.3:p.Asp248Val
ENST00000316099.8:c.743A>T	ENSP00000312987.3:p.Asp248Val
ENST00000316673.8:c.677A>T	ENSP00000315180.4:p.Asp226Val
ENST00000372920.1:c.*510A>T	ENSP00000362011.1:n.*510A>T
ENST00000415691.2:c.743A>T	ENSP00000412111.1:p.Asp248Val
ENST00000443598.6:c.743A>T	ENSP00000410911.2:p.Asp248Val
ENST00000457232.5:c.677A>T	ENSP00000396216.1:p.Asp226Val
ENST00000609795.5:c.677A>T	ENSP00000476609.1:p.Asp226Val
ENST00000619550.4:c.668A>T	ENSP00000481331.1:p.Asp223Val
NM_000457.4:c.743A>T , LRG_483t2:c.743A>T	NP_000448.3:p.Asp248Val
NM_001030003.2:c.677A>T	NP_001025174.1:p.Asp226Val
NM_001030004.2:c.677A>T	NP_001025175.1:p.Asp226Val
NM_001258355.1:c.722A>T	NP_001245284.1:p.Asp241Val
NM_001287182.1:c.668A>T	NP_001274111.1:p.Asp223Val
NM_001287183.1:c.668A>T , LRG_483t3:c.668A>T	NP_001274112.1:p.Asp223Val
NM_001287184.1:c.668A>T	NP_001274113.1:p.Asp223Val
NM_175914.4:c.677A>T , LRG_483t1:c.677A>T	NP_787110.2:p.Asp226Val
NM_178849.2:c.743A>T	NP_849180.1:p.Asp248Val
NM_178850.2:c.743A>T	NP_849181.1:p.Asp248Val
XM_005260407.2:c.860A>T	XP_005260464.1:p.Asp287Val
XM_011528797.1:c.791A>T	XP_011527099.1:p.Asp264Val
XM_011528798.1:c.791A>T	XP_011527100.1:p.Asp264Val
XM_005260407.4:c.860A>T	XP_005260464.1:p.Asp287Val
NM_001030003.3:c.677A>T	NP_001025174.1:p.Asp226Val
NM_001030004.3:c.677A>T	NP_001025175.1:p.Asp226Val
NM_001258355.2:c.722A>T	NP_001245284.1:p.Asp241Val
NM_001287182.2:c.668A>T	NP_001274111.1:p.Asp223Val
NM_001287184.2:c.668A>T	NP_001274113.1:p.Asp223Val
NM_178849.3:c.743A>T	NP_849180.1:p.Asp248Val
NM_178850.3:c.743A>T	NP_849181.1:p.Asp248Val
NM_000457.5:c.743A>T	NP_000448.3:p.Asp248Val
NM_000457.6:c.743A>T	NP_000448.3:p.Asp248Val
NM_001287183.2:c.668A>T	NP_001274112.1:p.Asp223Val
NM_175914.5:c.677A>T MANE Select	NP_787110.2:p.Asp226Val