Canonical Allele Identifier: CA162472358
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs964409434
gnomAD v2: 7-87212897-G-T
gnomAD v3: 7-87583581-G-T
gnomAD v4: 7-87583581-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87583581G>T , CM000669.2:g.87583581G>T GRCh38
NC_000007.13:g.87212897G>T , CM000669.1:g.87212897G>T GRCh37
NC_000007.12:g.87050833G>T NCBI36
NG_011513.1:g.134668C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.286+1931C>A ENSP00000265724.3:n.286+1931C>A
ENST00000622132.5:c.286+1931C>A MANE Select ENSP00000478255.1:n.286+1931C>A
ENST00000265724.7:c.286+1931C>A ENSP00000265724.3:n.286+1931C>A
ENST00000543898.5:c.286+1931C>A ENSP00000444095.1:n.286+1931C>A
ENST00000622132.4:c.286+1931C>A ENSP00000478255.1:n.286+1931C>A
NM_000927.4:c.286+1931C>A NP_000918.2:n.286+1931C>A
NM_001348944.1:c.286+1931C>A NP_001335873.1:n.286+1931C>A
NM_001348945.1:c.496+1931C>A NP_001335874.1:n.496+1931C>A
NM_001348946.1:c.286+1931C>A NP_001335875.1:n.286+1931C>A
NM_001348946.2:c.286+1931C>A MANE Select NP_001335875.1:n.286+1931C>A
NM_000927.5:c.286+1931C>A NP_000918.2:n.286+1931C>A
NM_001348944.2:c.286+1931C>A NP_001335873.1:n.286+1931C>A
NM_001348945.2:c.496+1931C>A NP_001335874.1:n.496+1931C>A