Canonical Allele Identifier: CA2683610158

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87600995-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87600995G>T , CM000669.2:g.87600995G>T	GRCh38
NC_000007.13:g.87230311G>T , CM000669.1:g.87230311G>T	GRCh37
NC_000007.12:g.87068247G>T	NCBI36
NG_011513.1:g.117254C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.-247C>A	ENSP00000265724.3:n.-247C>A
ENST00000265724.7:c.-247C>A	ENSP00000265724.3:n.-247C>A
ENST00000416177.1:c.-100C>A	ENSP00000399419.1:n.-100C>A
ENST00000476862.1:n.400C>A
ENST00000543898.5:c.-247C>A	ENSP00000444095.1:n.-247C>A
ENST00000622132.4:c.-247C>A	ENSP00000478255.1:n.-247C>A
NM_000927.4:c.-247C>A	NP_000918.2:n.-247C>A
NM_001348944.1:c.-100C>A	NP_001335873.1:n.-100C>A
NM_001348945.1:c.111C>A	NP_001335874.1:p.Ser37=
NM_000927.5:c.-247C>A	NP_000918.2:n.-247C>A
NM_001348944.2:c.-100C>A	NP_001335873.1:n.-100C>A
NM_001348945.2:c.111C>A	NP_001335874.1:p.Ser37=