Canonical Allele Identifier: CA2112146733

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95186711G= , CM000675.2:g.95186711G=	GRCh38
NC_000013.10:g.95838965G= , CM000675.1:g.95838965G=	GRCh37
NC_000013.9:g.94636966G=	NCBI36
NG_050651.1:g.119736C=
NG_050651.2:g.119736C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1568C=	ENSP00000493766.1:n.*1568C=
ENST00000643051.1:c.1535C=	ENSP00000495513.1:p.Ala512=
ENST00000643556.1:c.1676C=	ENSP00000494938.1:n.1676C=
ENST00000643816.1:n.1818C=
ENST00000643842.1:c.*1581C=	ENSP00000493861.1:n.*1581C=
ENST00000644471.1:n.1631C=
ENST00000645237.2:c.1535C= MANE Select	ENSP00000494609.1:p.Ala512=
ENST00000645532.1:c.1574C=	ENSP00000494431.1:p.Ala525=
ENST00000646439.1:c.1535C=	ENSP00000494751.1:p.Ala512=
ENST00000376887.8:c.1535C=	ENSP00000366084.4:p.Ala512=
ENST00000536256.3:c.1310C=	ENSP00000442024.1:p.Ala437=
ENST00000629385.1:c.1535C=	ENSP00000487081.1:p.Ala512=
NM_001105515.2:c.1535C=	NP_001098985.1:p.Ala512=
NM_001301829.1:c.1535C=	NP_001288758.1:p.Ala512=
NM_001301830.1:c.1310C=	NP_001288759.1:p.Ala437=
NM_005845.4:c.1535C=	NP_005836.2:p.Ala512=
XM_005254025.2:c.1406C=	XP_005254082.1:p.Ala469=
XM_006719914.1:c.1445C=	XP_006719977.1:p.Ala482=
XM_011521047.1:c.986C=	XP_011519349.1:p.Ala329=
XM_017020319.1:c.1406C=	XP_016875808.1:p.Ala469=
XM_017020320.2:c.1535C=	XP_016875809.1:p.Ala512=
XM_017020322.1:c.1406C=	XP_016875811.1:p.Ala469=
NM_001105515.3:c.1535C=	NP_001098985.1:p.Ala512=
NM_001301829.2:c.1535C=	NP_001288758.1:p.Ala512=
NM_001301830.2:c.1310C=	NP_001288759.1:p.Ala437=
NM_005845.5:c.1535C= MANE Select	NP_005836.2:p.Ala512=