Canonical Allele Identifier: CA2683610053

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87600811-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87600811C>A , CM000669.2:g.87600811C>A	GRCh38
NC_000007.13:g.87230127C>A , CM000669.1:g.87230127C>A	GRCh37
NC_000007.12:g.87068063C>A	NCBI36
NG_011513.1:g.117438G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.-63G>T	ENSP00000265724.3:n.-63G>T
ENST00000622132.5:c.-63G>T MANE Select	ENSP00000478255.1:n.-63G>T
ENST00000265724.7:c.-63G>T	ENSP00000265724.3:n.-63G>T
ENST00000416177.1:c.-63G>T	ENSP00000399419.1:n.-63G>T
ENST00000543898.5:c.-63G>T	ENSP00000444095.1:n.-63G>T
ENST00000622132.4:c.-63G>T	ENSP00000478255.1:n.-63G>T
NM_000927.4:c.-63G>T	NP_000918.2:n.-63G>T
NM_001348944.1:c.-63G>T	NP_001335873.1:n.-63G>T
NM_001348945.1:c.148G>T	NP_001335874.1:p.Val50Phe
NM_001348946.1:c.-63G>T	NP_001335875.1:n.-63G>T
NM_001348946.2:c.-63G>T MANE Select	NP_001335875.1:n.-63G>T
NM_000927.5:c.-63G>T	NP_000918.2:n.-63G>T
NM_001348944.2:c.-63G>T	NP_001335873.1:n.-63G>T
NM_001348945.2:c.148G>T	NP_001335874.1:p.Val50Phe