Canonical Allele Identifier: CA2112112177

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170546G= , CM000675.2:g.95170546G=	GRCh38
NC_000013.10:g.95822800G= , CM000675.1:g.95822800G=	GRCh37
NC_000013.9:g.94620801G=	NCBI36
NG_050651.1:g.135901C=
NG_050651.2:g.135901C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1843C=	ENSP00000493766.1:n.*1843C=
ENST00000643051.1:c.1810C=	ENSP00000495513.1:p.Leu604=
ENST00000643556.1:c.1951C=	ENSP00000494938.1:n.1951C=
ENST00000643816.1:n.2093C=
ENST00000643842.1:c.*1856C=	ENSP00000493861.1:n.*1856C=
ENST00000644471.1:n.1901C=
ENST00000645237.2:c.1810C= MANE Select	ENSP00000494609.1:p.Leu604=
ENST00000645532.1:c.1849C=	ENSP00000494431.1:p.Leu617=
ENST00000646439.1:c.1810C=	ENSP00000494751.1:p.Leu604=
ENST00000376887.8:c.1810C=	ENSP00000366084.4:p.Leu604=
ENST00000536256.3:c.1585C=	ENSP00000442024.1:p.Leu529=
ENST00000629385.1:c.1810C=	ENSP00000487081.1:p.Leu604=
NM_001105515.2:c.1810C=	NP_001098985.1:p.Leu604=
NM_001301829.1:c.1810C=	NP_001288758.1:p.Leu604=
NM_001301830.1:c.1585C=	NP_001288759.1:p.Leu529=
NM_005845.4:c.1810C=	NP_005836.2:p.Leu604=
XM_005254025.2:c.1681C=	XP_005254082.1:p.Leu561=
XM_006719914.1:c.1720C=	XP_006719977.1:p.Leu574=
XM_011521047.1:c.1261C=	XP_011519349.1:p.Leu421=
XM_017020319.1:c.1681C=	XP_016875808.1:p.Leu561=
XM_017020320.2:c.1810C=	XP_016875809.1:p.Leu604=
XM_017020321.1:c.295C=	XP_016875810.1:p.Leu99=
XM_017020322.1:c.1681C=	XP_016875811.1:p.Leu561=
NM_001105515.3:c.1810C=	NP_001098985.1:p.Leu604=
NM_001301829.2:c.1810C=	NP_001288758.1:p.Leu604=
NM_001301830.2:c.1585C=	NP_001288759.1:p.Leu529=
NM_005845.5:c.1810C= MANE Select	NP_005836.2:p.Leu604=