Canonical Allele Identifier: CA2683610120

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87600943-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87600943C>T , CM000669.2:g.87600943C>T	GRCh38
NC_000007.13:g.87230259C>T , CM000669.1:g.87230259C>T	GRCh37
NC_000007.12:g.87068195C>T	NCBI36
NG_011513.1:g.117306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.-195G>A	ENSP00000265724.3:n.-195G>A
ENST00000265724.7:c.-195G>A	ENSP00000265724.3:n.-195G>A
ENST00000416177.1:c.-78+30G>A	ENSP00000399419.1:n.-78+30G>A
ENST00000476862.1:n.452G>A
ENST00000543898.5:c.-195G>A	ENSP00000444095.1:n.-195G>A
ENST00000622132.4:c.-195G>A	ENSP00000478255.1:n.-195G>A
NM_000927.4:c.-195G>A	NP_000918.2:n.-195G>A
NM_001348944.1:c.-78+30G>A	NP_001335873.1:n.-78+30G>A
NM_001348945.1:c.133+30G>A	NP_001335874.1:n.133+30G>A
NM_000927.5:c.-195G>A	NP_000918.2:n.-195G>A
NM_001348944.2:c.-78+30G>A	NP_001335873.1:n.-78+30G>A
NM_001348945.2:c.133+30G>A	NP_001335874.1:n.133+30G>A