Canonical Allele Identifier: CA2112112180

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170557G= , CM000675.2:g.95170557G=	GRCh38
NC_000013.10:g.95822811G= , CM000675.1:g.95822811G=	GRCh37
NC_000013.9:g.94620812G=	NCBI36
NG_050651.1:g.135890C=
NG_050651.2:g.135890C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1832C=	ENSP00000493766.1:n.*1832C=
ENST00000643051.1:c.1799C=	ENSP00000495513.1:p.Ala600=
ENST00000643556.1:c.1940C=	ENSP00000494938.1:n.1940C=
ENST00000643816.1:n.2082C=
ENST00000643842.1:c.*1845C=	ENSP00000493861.1:n.*1845C=
ENST00000644471.1:n.1890C=
ENST00000645237.2:c.1799C= MANE Select	ENSP00000494609.1:p.Ala600=
ENST00000645532.1:c.1838C=	ENSP00000494431.1:p.Ala613=
ENST00000646439.1:c.1799C=	ENSP00000494751.1:p.Ala600=
ENST00000376887.8:c.1799C=	ENSP00000366084.4:p.Ala600=
ENST00000536256.3:c.1574C=	ENSP00000442024.1:p.Ala525=
ENST00000629385.1:c.1799C=	ENSP00000487081.1:p.Ala600=
NM_001105515.2:c.1799C=	NP_001098985.1:p.Ala600=
NM_001301829.1:c.1799C=	NP_001288758.1:p.Ala600=
NM_001301830.1:c.1574C=	NP_001288759.1:p.Ala525=
NM_005845.4:c.1799C=	NP_005836.2:p.Ala600=
XM_005254025.2:c.1670C=	XP_005254082.1:p.Ala557=
XM_006719914.1:c.1709C=	XP_006719977.1:p.Ala570=
XM_011521047.1:c.1250C=	XP_011519349.1:p.Ala417=
XM_017020319.1:c.1670C=	XP_016875808.1:p.Ala557=
XM_017020320.2:c.1799C=	XP_016875809.1:p.Ala600=
XM_017020321.1:c.284C=	XP_016875810.1:p.Ala95=
XM_017020322.1:c.1670C=	XP_016875811.1:p.Ala557=
NM_001105515.3:c.1799C=	NP_001098985.1:p.Ala600=
NM_001301829.2:c.1799C=	NP_001288758.1:p.Ala600=
NM_001301830.2:c.1574C=	NP_001288759.1:p.Ala525=
NM_005845.5:c.1799C= MANE Select	NP_005836.2:p.Ala600=