Canonical Allele Identifier: CA2437725224

Gene: ABCB7

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.75070433C= , CM000685.2:g.75070433C=	GRCh38
NC_000023.10:g.74290268C= , CM000685.1:g.74290268C=	GRCh37
NC_000023.9:g.74206993C=	NCBI36
NG_007980.1:g.90865G=
NG_007980.3:g.90851G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253577.9:c.1300G=	ENSP00000253577.3:p.Glu434=
ENST00000373394.8:c.1297G= MANE Select	ENSP00000362492.3:p.Glu433=
ENST00000620875.5:c.1180G=	ENSP00000479985.1:p.Glu394=
ENST00000644766.1:c.1300G=	ENSP00000493713.1:p.Glu434=
ENST00000645829.3:c.1312G=	ENSP00000496526.2:p.Glu438=
ENST00000663420.1:n.1217G=
ENST00000666534.1:n.1187G=
ENST00000669388.1:n.1158G=
ENST00000669573.1:c.1120G=	ENSP00000499543.1:p.Glu374=
ENST00000253577.7:c.1300G=	ENSP00000253577.3:p.Glu434=
ENST00000339447.8:c.1177G=	ENSP00000343849.4:p.Glu393=
ENST00000373394.7:c.1297G=	ENSP00000362492.3:p.Glu433=
ENST00000469368.1:n.163G=
ENST00000529949.5:c.1219G=	ENSP00000436586.1:p.Glu407=
ENST00000534570.5:n.409G=
ENST00000620875.4:c.1180G=	ENSP00000479985.1:p.Glu394=
NM_001271696.1:c.1297G=	NP_001258625.1:p.Glu433=
NM_001271697.1:c.1177G=	NP_001258626.1:p.Glu393=
NM_001271698.1:c.1219G=	NP_001258627.1:p.Glu407=
NM_001271699.1:c.1180G=	NP_001258628.1:p.Glu394=
NM_004299.4:c.1300G=	NP_004290.2:p.Glu434=
NM_001271696.2:c.1297G=	NP_001258625.1:p.Glu433=
NM_001271697.2:c.1177G=	NP_001258626.1:p.Glu393=
NM_001271698.2:c.1219G=	NP_001258627.1:p.Glu407=
NM_001271699.2:c.1180G=	NP_001258628.1:p.Glu394=
NM_004299.6:c.1300G=	NP_004290.2:p.Glu434=
NM_001271696.3:c.1297G= MANE Select	NP_001258625.1:p.Glu433=
NM_001271697.3:c.1177G=	NP_001258626.1:p.Glu393=
NM_001271698.3:c.1219G=	NP_001258627.1:p.Glu407=
NM_001271699.3:c.1180G=	NP_001258628.1:p.Glu394=