Canonical Allele Identifier: CA345526

Gene: ABCB7

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.75075593T>A , CM000685.2:g.75075593T>A	GRCh38
NC_000023.10:g.74295428T>A , CM000685.1:g.74295428T>A	GRCh37
NC_000023.9:g.74212153T>A	NCBI36
NG_007980.1:g.85705A>T
NG_007980.3:g.85691A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001271696.3:c.624A>T MANE Select	NP_001258625.1:p.Glu208Asp
ENST00000373394.8:c.624A>T MANE Select	ENSP00000362492.3:p.Glu208Asp
NM_001271696.1:c.624A>T	NP_001258625.1:p.Glu208Asp
NM_001271696.2:c.624A>T	NP_001258625.1:p.Glu208Asp
NM_001271697.1:c.504A>T	NP_001258626.1:p.Glu168Asp
NM_001271697.2:c.504A>T	NP_001258626.1:p.Glu168Asp
NM_001271697.3:c.504A>T	NP_001258626.1:p.Glu168Asp
NM_001271698.1:c.546A>T	NP_001258627.1:p.Glu182Asp
NM_001271698.2:c.546A>T	NP_001258627.1:p.Glu182Asp
NM_001271698.3:c.546A>T	NP_001258627.1:p.Glu182Asp
NM_001271699.1:c.507A>T	NP_001258628.1:p.Glu169Asp
NM_001271699.2:c.507A>T	NP_001258628.1:p.Glu169Asp
NM_001271699.3:c.507A>T	NP_001258628.1:p.Glu169Asp
NM_004299.4:c.627A>T	NP_004290.2:p.Glu209Asp
NM_004299.6:c.627A>T	NP_004290.2:p.Glu209Asp
ENST00000253577.7:c.627A>T	ENSP00000253577.3:p.Glu209Asp
ENST00000253577.9:c.627A>T	ENSP00000253577.3:p.Glu209Asp
ENST00000339447.8:c.504A>T	ENSP00000343849.4:p.Glu168Asp
ENST00000373394.7:c.624A>T	ENSP00000362492.3:p.Glu208Asp
ENST00000529949.5:c.546A>T	ENSP00000436586.1:p.Glu182Asp
ENST00000534524.5:c.459A>T	ENSP00000435521.1:p.Glu153Asp
ENST00000620875.4:c.507A>T	ENSP00000479985.1:p.Glu169Asp
ENST00000620875.5:c.507A>T	ENSP00000479985.1:p.Glu169Asp
ENST00000644766.1:c.627A>T	ENSP00000493713.1:p.Glu209Asp
ENST00000645829.3:c.639A>T	ENSP00000496526.2:p.Glu213Asp
ENST00000663420.1:n.544A>T
ENST00000666534.1:n.514A>T
ENST00000669388.1:n.485A>T
ENST00000669573.1:c.624A>T	ENSP00000499543.1:p.Glu208Asp