Canonical Allele Identifier: CA2112112193

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170570A= , CM000675.2:g.95170570A=	GRCh38
NC_000013.10:g.95822824A= , CM000675.1:g.95822824A=	GRCh37
NC_000013.9:g.94620825A=	NCBI36
NG_050651.1:g.135877T=
NG_050651.2:g.135877T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1819T=	ENSP00000493766.1:n.*1819T=
ENST00000643051.1:c.1786T=	ENSP00000495513.1:p.Tyr596=
ENST00000643556.1:c.1927T=	ENSP00000494938.1:n.1927T=
ENST00000643816.1:n.2069T=
ENST00000643842.1:c.*1832T=	ENSP00000493861.1:n.*1832T=
ENST00000644471.1:n.1877T=
ENST00000645237.2:c.1786T= MANE Select	ENSP00000494609.1:p.Tyr596=
ENST00000645532.1:c.1825T=	ENSP00000494431.1:p.Tyr609=
ENST00000646439.1:c.1786T=	ENSP00000494751.1:p.Tyr596=
ENST00000376887.8:c.1786T=	ENSP00000366084.4:p.Tyr596=
ENST00000536256.3:c.1561T=	ENSP00000442024.1:p.Tyr521=
ENST00000629385.1:c.1786T=	ENSP00000487081.1:p.Tyr596=
NM_001105515.2:c.1786T=	NP_001098985.1:p.Tyr596=
NM_001301829.1:c.1786T=	NP_001288758.1:p.Tyr596=
NM_001301830.1:c.1561T=	NP_001288759.1:p.Tyr521=
NM_005845.4:c.1786T=	NP_005836.2:p.Tyr596=
XM_005254025.2:c.1657T=	XP_005254082.1:p.Tyr553=
XM_006719914.1:c.1696T=	XP_006719977.1:p.Tyr566=
XM_011521047.1:c.1237T=	XP_011519349.1:p.Tyr413=
XM_017020319.1:c.1657T=	XP_016875808.1:p.Tyr553=
XM_017020320.2:c.1786T=	XP_016875809.1:p.Tyr596=
XM_017020321.1:c.271T=	XP_016875810.1:p.Tyr91=
XM_017020322.1:c.1657T=	XP_016875811.1:p.Tyr553=
NM_001105515.3:c.1786T=	NP_001098985.1:p.Tyr596=
NM_001301829.2:c.1786T=	NP_001288758.1:p.Tyr596=
NM_001301830.2:c.1561T=	NP_001288759.1:p.Tyr521=
NM_005845.5:c.1786T= MANE Select	NP_005836.2:p.Tyr596=