Canonical Allele Identifier: CA2112146724

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95186709G= , CM000675.2:g.95186709G=	GRCh38
NC_000013.10:g.95838963G= , CM000675.1:g.95838963G=	GRCh37
NC_000013.9:g.94636964G=	NCBI36
NG_050651.1:g.119738C=
NG_050651.2:g.119738C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000642524.1:c.*1570C=	ENSP00000493766.1:n.*1570C=
ENST00000643051.1:c.1537C=	ENSP00000495513.1:p.Leu513=
ENST00000643556.1:c.1678C=	ENSP00000494938.1:n.1678C=
ENST00000643816.1:n.1820C=
ENST00000643842.1:c.*1583C=	ENSP00000493861.1:n.*1583C=
ENST00000644471.1:n.1633C=
ENST00000645237.2:c.1537C= MANE Select	ENSP00000494609.1:p.Leu513=
ENST00000645532.1:c.1576C=	ENSP00000494431.1:p.Leu526=
ENST00000646439.1:c.1537C=	ENSP00000494751.1:p.Leu513=
ENST00000376887.8:c.1537C=	ENSP00000366084.4:p.Leu513=
ENST00000536256.3:c.1312C=	ENSP00000442024.1:p.Leu438=
ENST00000629385.1:c.1537C=	ENSP00000487081.1:p.Leu513=
NM_001105515.2:c.1537C=	NP_001098985.1:p.Leu513=
NM_001301829.1:c.1537C=	NP_001288758.1:p.Leu513=
NM_001301830.1:c.1312C=	NP_001288759.1:p.Leu438=
NM_005845.4:c.1537C=	NP_005836.2:p.Leu513=
XM_005254025.2:c.1408C=	XP_005254082.1:p.Leu470=
XM_006719914.1:c.1447C=	XP_006719977.1:p.Leu483=
XM_011521047.1:c.988C=	XP_011519349.1:p.Leu330=
XM_017020319.1:c.1408C=	XP_016875808.1:p.Leu470=
XM_017020320.2:c.1537C=	XP_016875809.1:p.Leu513=
XM_017020322.1:c.1408C=	XP_016875811.1:p.Leu470=
NM_001105515.3:c.1537C=	NP_001098985.1:p.Leu513=
NM_001301829.2:c.1537C=	NP_001288758.1:p.Leu513=
NM_001301830.2:c.1312C=	NP_001288759.1:p.Leu438=
NM_005845.5:c.1537C= MANE Select	NP_005836.2:p.Leu513=