Canonical Allele Identifier: CA409108886

Gene: HNF4A

Linked Data

• MyVariant Identifiers: chr20:g.43052900T>C (hg19) ; chr20:g.44424260T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44424260T>C , CM000682.2:g.44424260T>C	GRCh38
NC_000020.10:g.43052900T>C , CM000682.1:g.43052900T>C	GRCh37
NC_000020.9:g.42486314T>C	NCBI36
NG_009818.1:g.73460T>C , LRG_483:g.73460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.1063+6T>C MANE Select	ENSP00000315180.4:n.1063+6T>C
ENST00000316099.10:c.1129+6T>C	ENSP00000312987.3:n.1129+6T>C
ENST00000619550.5:c.1103+6T>C
ENST00000316099.9:c.1129+6T>C	ENSP00000312987.3:n.1129+6T>C
ENST00000316099.8:c.1129+6T>C	ENSP00000312987.3:n.1129+6T>C
ENST00000316673.8:c.1063+6T>C	ENSP00000315180.4:n.1063+6T>C
ENST00000372920.1:c.*896+6T>C	ENSP00000362011.1:n.*896+6T>C
ENST00000415691.2:c.1129+6T>C	ENSP00000412111.1:n.1129+6T>C
ENST00000443598.6:c.1135T>C	ENSP00000410911.2:p.Cys379Arg
ENST00000457232.5:c.1063+6T>C	ENSP00000396216.1:n.1063+6T>C
ENST00000609795.5:c.1069T>C	ENSP00000476609.1:p.Cys357Arg
ENST00000619550.4:c.1054+6T>C	ENSP00000481331.1:n.1054+6T>C
NM_000457.4:c.1129+6T>C , LRG_483t2:c.1129+6T>C	NP_000448.3:n.1129+6T>C
NM_001030003.2:c.1063+6T>C	NP_001025174.1:n.1063+6T>C
NM_001030004.2:c.1069T>C	NP_001025175.1:p.Cys357Arg
NM_001258355.1:c.1108+6T>C	NP_001245284.1:n.1108+6T>C
NM_001287182.1:c.1054+6T>C	NP_001274111.1:n.1054+6T>C
NM_001287183.1:c.1054+6T>C , LRG_483t3:c.1054+6T>C	NP_001274112.1:n.1054+6T>C
NM_001287184.1:c.1060T>C	NP_001274113.1:p.Cys354Arg
NM_175914.4:c.1063+6T>C , LRG_483t1:c.1063+6T>C	NP_787110.2:n.1063+6T>C
NM_178849.2:c.1129+6T>C	NP_849180.1:n.1129+6T>C
NM_178850.2:c.1135T>C	NP_849181.1:p.Cys379Arg
XM_005260407.2:c.1246+6T>C	XP_005260464.1:n.1246+6T>C
XM_011528797.1:c.1177+6T>C	XP_011527099.1:n.1177+6T>C
XM_011528798.1:c.1177+6T>C	XP_011527100.1:n.1177+6T>C
XM_005260407.4:c.1246+6T>C	XP_005260464.1:n.1246+6T>C
NM_001030003.3:c.1063+6T>C	NP_001025174.1:n.1063+6T>C
NM_001030004.3:c.1069T>C	NP_001025175.1:p.Cys357Arg
NM_001258355.2:c.1108+6T>C	NP_001245284.1:n.1108+6T>C
NM_001287182.2:c.1054+6T>C	NP_001274111.1:n.1054+6T>C
NM_001287184.2:c.1060T>C	NP_001274113.1:p.Cys354Arg
NM_178849.3:c.1129+6T>C	NP_849180.1:n.1129+6T>C
NM_178850.3:c.1135T>C	NP_849181.1:p.Cys379Arg
NM_000457.5:c.1129+6T>C	NP_000448.3:n.1129+6T>C
NM_000457.6:c.1129+6T>C	NP_000448.3:n.1129+6T>C
NM_001287183.2:c.1054+6T>C	NP_001274112.1:n.1054+6T>C
NM_175914.5:c.1063+6T>C MANE Select	NP_787110.2:n.1063+6T>C