Canonical Allele Identifier: CA2112127339

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95210762A= , CM000675.2:g.95210762A=	GRCh38
NC_000013.10:g.95863016A= , CM000675.1:g.95863016A=	GRCh37
NC_000013.9:g.94661017A=	NCBI36
NG_050651.1:g.95685T=
NG_050651.2:g.95685T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000642524.1:c.*584T=	ENSP00000493766.1:n.*584T=
ENST00000643051.1:c.551T=	ENSP00000495513.1:p.Met184=
ENST00000643556.1:c.692T=	ENSP00000494938.1:n.692T=
ENST00000643816.1:n.834T=
ENST00000643842.1:c.*597T=	ENSP00000493861.1:n.*597T=
ENST00000644471.1:n.647T=
ENST00000645237.2:c.551T= MANE Select	ENSP00000494609.1:p.Met184=
ENST00000645532.1:c.590T=	ENSP00000494431.1:p.Met197=
ENST00000646439.1:c.551T=	ENSP00000494751.1:p.Met184=
ENST00000376887.8:c.551T=	ENSP00000366084.4:p.Met184=
ENST00000536256.3:c.326T=	ENSP00000442024.1:p.Met109=
ENST00000629385.1:c.551T=	ENSP00000487081.1:p.Met184=
NM_001105515.2:c.551T=	NP_001098985.1:p.Met184=
NM_001301829.1:c.551T=	NP_001288758.1:p.Met184=
NM_001301830.1:c.326T=	NP_001288759.1:p.Met109=
NM_005845.4:c.551T=	NP_005836.2:p.Met184=
XM_005254025.2:c.422T=	XP_005254082.1:p.Met141=
XM_006719914.1:c.551T=	XP_006719977.1:p.Met184=
XM_011521047.1:c.2T=	XP_011519349.1:p.Met1=
XM_017020319.1:c.422T=	XP_016875808.1:p.Met141=
XM_017020320.2:c.551T=	XP_016875809.1:p.Met184=
XM_017020322.1:c.422T=	XP_016875811.1:p.Met141=
NM_001105515.3:c.551T=	NP_001098985.1:p.Met184=
NM_001301829.2:c.551T=	NP_001288758.1:p.Met184=
NM_001301830.2:c.326T=	NP_001288759.1:p.Met109=
NM_005845.5:c.551T= MANE Select	NP_005836.2:p.Met184=