Canonical Allele Identifier: CA1104133282
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs529048642
gnomAD v3: 7-87551224-C-T
gnomAD v4: 7-87551224-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87551224C>T , CM000669.2:g.87551224C>T GRCh38
NC_000007.13:g.87180540C>T , CM000669.1:g.87180540C>T GRCh37
NC_000007.12:g.87018476C>T NCBI36
NG_011513.1:g.167025G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1000-386G>A ENSP00000265724.3:n.1000-386G>A
ENST00000622132.5:c.1000-386G>A MANE Select ENSP00000478255.1:n.1000-386G>A
ENST00000265724.7:c.1000-386G>A ENSP00000265724.3:n.1000-386G>A
ENST00000543898.5:c.808-386G>A ENSP00000444095.1:n.808-386G>A
ENST00000622132.4:c.1000-386G>A ENSP00000478255.1:n.1000-386G>A
NM_000927.4:c.1000-386G>A NP_000918.2:n.1000-386G>A
NM_001348944.1:c.1000-386G>A NP_001335873.1:n.1000-386G>A
NM_001348945.1:c.1210-386G>A NP_001335874.1:n.1210-386G>A
NM_001348946.1:c.1000-386G>A NP_001335875.1:n.1000-386G>A
NM_001348946.2:c.1000-386G>A MANE Select NP_001335875.1:n.1000-386G>A
NM_000927.5:c.1000-386G>A NP_000918.2:n.1000-386G>A
NM_001348944.2:c.1000-386G>A NP_001335873.1:n.1000-386G>A
NM_001348945.2:c.1210-386G>A NP_001335874.1:n.1210-386G>A