Canonical Allele Identifier: CA162111263
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs1055926288
gnomAD v3: 7-87532128-C-T
gnomAD v4: 7-87532128-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87532128C>T , CM000669.2:g.87532128C>T GRCh38
NC_000007.13:g.87161444C>T , CM000669.1:g.87161444C>T GRCh37
NC_000007.12:g.86999380C>T NCBI36
NG_011513.1:g.186121G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.2482-631G>A ENSP00000265724.3:n.2482-631G>A
ENST00000622132.5:c.2482-631G>A MANE Select ENSP00000478255.1:n.2482-631G>A
ENST00000265724.7:c.2482-631G>A ENSP00000265724.3:n.2482-631G>A
ENST00000496821.5:n.110-631G>A
ENST00000543898.5:c.2290-631G>A ENSP00000444095.1:n.2290-631G>A
ENST00000622132.4:c.2482-631G>A ENSP00000478255.1:n.2482-631G>A
NM_000927.4:c.2482-631G>A NP_000918.2:n.2482-631G>A
NM_001348944.1:c.2482-631G>A NP_001335873.1:n.2482-631G>A
NM_001348945.1:c.2692-631G>A NP_001335874.1:n.2692-631G>A
NM_001348946.1:c.2482-631G>A NP_001335875.1:n.2482-631G>A
NM_001348946.2:c.2482-631G>A MANE Select NP_001335875.1:n.2482-631G>A
NM_000927.5:c.2482-631G>A NP_000918.2:n.2482-631G>A
NM_001348944.2:c.2482-631G>A NP_001335873.1:n.2482-631G>A
NM_001348945.2:c.2692-631G>A NP_001335874.1:n.2692-631G>A