Canonical Allele Identifier: CA2112112199

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170576A= , CM000675.2:g.95170576A=	GRCh38
NC_000013.10:g.95822830A= , CM000675.1:g.95822830A=	GRCh37
NC_000013.9:g.94620831A=	NCBI36
NG_050651.1:g.135871T=
NG_050651.2:g.135871T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1813T=	ENSP00000493766.1:n.*1813T=
ENST00000643051.1:c.1780T=	ENSP00000495513.1:p.Leu594=
ENST00000643556.1:c.1921T=	ENSP00000494938.1:n.1921T=
ENST00000643816.1:n.2063T=
ENST00000643842.1:c.*1826T=	ENSP00000493861.1:n.*1826T=
ENST00000644471.1:n.1871T=
ENST00000645237.2:c.1780T= MANE Select	ENSP00000494609.1:p.Leu594=
ENST00000645532.1:c.1819T=	ENSP00000494431.1:p.Leu607=
ENST00000646439.1:c.1780T=	ENSP00000494751.1:p.Leu594=
ENST00000376887.8:c.1780T=	ENSP00000366084.4:p.Leu594=
ENST00000536256.3:c.1555T=	ENSP00000442024.1:p.Leu519=
ENST00000629385.1:c.1780T=	ENSP00000487081.1:p.Leu594=
NM_001105515.2:c.1780T=	NP_001098985.1:p.Leu594=
NM_001301829.1:c.1780T=	NP_001288758.1:p.Leu594=
NM_001301830.1:c.1555T=	NP_001288759.1:p.Leu519=
NM_005845.4:c.1780T=	NP_005836.2:p.Leu594=
XM_005254025.2:c.1651T=	XP_005254082.1:p.Leu551=
XM_006719914.1:c.1690T=	XP_006719977.1:p.Leu564=
XM_011521047.1:c.1231T=	XP_011519349.1:p.Leu411=
XM_017020319.1:c.1651T=	XP_016875808.1:p.Leu551=
XM_017020320.2:c.1780T=	XP_016875809.1:p.Leu594=
XM_017020321.1:c.265T=	XP_016875810.1:p.Leu89=
XM_017020322.1:c.1651T=	XP_016875811.1:p.Leu551=
NM_001105515.3:c.1780T=	NP_001098985.1:p.Leu594=
NM_001301829.2:c.1780T=	NP_001288758.1:p.Leu594=
NM_001301830.2:c.1555T=	NP_001288759.1:p.Leu519=
NM_005845.5:c.1780T= MANE Select	NP_005836.2:p.Leu594=