Canonical Allele Identifier: CA2112112167

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170535T= , CM000675.2:g.95170535T=	GRCh38
NC_000013.10:g.95822789T= , CM000675.1:g.95822789T=	GRCh37
NC_000013.9:g.94620790T=	NCBI36
NG_050651.1:g.135912A=
NG_050651.2:g.135912A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1854A=	ENSP00000493766.1:n.*1854A=
ENST00000643051.1:c.1821A=	ENSP00000495513.1:p.Lys607=
ENST00000643556.1:c.1962A=	ENSP00000494938.1:n.1962A=
ENST00000643816.1:n.2104A=
ENST00000643842.1:c.*1867A=	ENSP00000493861.1:n.*1867A=
ENST00000644471.1:n.1912A=
ENST00000645237.2:c.1821A= MANE Select	ENSP00000494609.1:p.Lys607=
ENST00000645532.1:c.1860A=	ENSP00000494431.1:p.Lys620=
ENST00000646439.1:c.1821A=	ENSP00000494751.1:p.Lys607=
ENST00000376887.8:c.1821A=	ENSP00000366084.4:p.Lys607=
ENST00000536256.3:c.1596A=	ENSP00000442024.1:p.Lys532=
ENST00000629385.1:c.1821A=	ENSP00000487081.1:p.Lys607=
NM_001105515.2:c.1821A=	NP_001098985.1:p.Lys607=
NM_001301829.1:c.1821A=	NP_001288758.1:p.Lys607=
NM_001301830.1:c.1596A=	NP_001288759.1:p.Lys532=
NM_005845.4:c.1821A=	NP_005836.2:p.Lys607=
XM_005254025.2:c.1692A=	XP_005254082.1:p.Lys564=
XM_006719914.1:c.1731A=	XP_006719977.1:p.Lys577=
XM_011521047.1:c.1272A=	XP_011519349.1:p.Lys424=
XM_017020319.1:c.1692A=	XP_016875808.1:p.Lys564=
XM_017020320.2:c.1821A=	XP_016875809.1:p.Lys607=
XM_017020321.1:c.306A=	XP_016875810.1:p.Lys102=
XM_017020322.1:c.1692A=	XP_016875811.1:p.Lys564=
NM_001105515.3:c.1821A=	NP_001098985.1:p.Lys607=
NM_001301829.2:c.1821A=	NP_001288758.1:p.Lys607=
NM_001301830.2:c.1596A=	NP_001288759.1:p.Lys532=
NM_005845.5:c.1821A= MANE Select	NP_005836.2:p.Lys607=