Canonical Allele Identifier: CA162474275
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs201781020
gnomAD v3: 7-87600784-G-A
gnomAD v4: 7-87600784-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87600784G>A , CM000669.2:g.87600784G>A GRCh38
NC_000007.13:g.87230100G>A , CM000669.1:g.87230100G>A GRCh37
NC_000007.12:g.87068036G>A NCBI36
NG_011513.1:g.117465C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.-36C>T ENSP00000265724.3:n.-36C>T
ENST00000622132.5:c.-36C>T MANE Select ENSP00000478255.1:n.-36C>T
ENST00000265724.7:c.-36C>T ENSP00000265724.3:n.-36C>T
ENST00000416177.1:c.-36C>T ENSP00000399419.1:n.-36C>T
ENST00000543898.5:c.-36C>T ENSP00000444095.1:n.-36C>T
ENST00000622132.4:c.-36C>T ENSP00000478255.1:n.-36C>T
NM_000927.4:c.-36C>T NP_000918.2:n.-36C>T
NM_001348944.1:c.-36C>T NP_001335873.1:n.-36C>T
NM_001348945.1:c.175C>T NP_001335874.1:p.Arg59Cys
NM_001348946.1:c.-36C>T NP_001335875.1:n.-36C>T
NM_001348946.2:c.-36C>T MANE Select NP_001335875.1:n.-36C>T
NM_000927.5:c.-36C>T NP_000918.2:n.-36C>T
NM_001348944.2:c.-36C>T NP_001335873.1:n.-36C>T
NM_001348945.2:c.175C>T NP_001335874.1:p.Arg59Cys