Canonical Allele Identifier: CA162474287
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs1040992735
gnomAD v3: 7-87600885-G-A
gnomAD v4: 7-87600885-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87600885G>A , CM000669.2:g.87600885G>A GRCh38
NC_000007.13:g.87230201G>A , CM000669.1:g.87230201G>A GRCh37
NC_000007.12:g.87068137G>A NCBI36
NG_011513.1:g.117364C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.-137C>T ENSP00000265724.3:n.-137C>T
ENST00000265724.7:c.-137C>T ENSP00000265724.3:n.-137C>T
ENST00000416177.1:c.-77-60C>T ENSP00000399419.1:n.-77-60C>T
ENST00000476862.1:n.510C>T
ENST00000543898.5:c.-137C>T ENSP00000444095.1:n.-137C>T
ENST00000622132.4:c.-137C>T ENSP00000478255.1:n.-137C>T
NM_000927.4:c.-137C>T NP_000918.2:n.-137C>T
NM_001348944.1:c.-77-60C>T NP_001335873.1:n.-77-60C>T
NM_001348945.1:c.134-60C>T NP_001335874.1:n.134-60C>T
NM_001348946.1:c.-137C>T NP_001335875.1:n.-137C>T
NM_000927.5:c.-137C>T NP_000918.2:n.-137C>T
NM_001348944.2:c.-77-60C>T NP_001335873.1:n.-77-60C>T
NM_001348945.2:c.134-60C>T NP_001335874.1:n.134-60C>T