Canonical Allele Identifier: CA15537492
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs17327442
gnomAD v2: 7-87212990-T-A
gnomAD v3: 7-87583674-T-A
gnomAD v4: 7-87583674-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87583674T>A , CM000669.2:g.87583674T>A GRCh38
NC_000007.13:g.87212990T>A , CM000669.1:g.87212990T>A GRCh37
NC_000007.12:g.87050926T>A NCBI36
NG_011513.1:g.134575A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.286+1838A>T ENSP00000265724.3:n.286+1838A>T
ENST00000622132.5:c.286+1838A>T MANE Select ENSP00000478255.1:n.286+1838A>T
ENST00000265724.7:c.286+1838A>T ENSP00000265724.3:n.286+1838A>T
ENST00000543898.5:c.286+1838A>T ENSP00000444095.1:n.286+1838A>T
ENST00000622132.4:c.286+1838A>T ENSP00000478255.1:n.286+1838A>T
NM_000927.4:c.286+1838A>T NP_000918.2:n.286+1838A>T
NM_001348944.1:c.286+1838A>T NP_001335873.1:n.286+1838A>T
NM_001348945.1:c.496+1838A>T NP_001335874.1:n.496+1838A>T
NM_001348946.1:c.286+1838A>T NP_001335875.1:n.286+1838A>T
NM_001348946.2:c.286+1838A>T MANE Select NP_001335875.1:n.286+1838A>T
NM_000927.5:c.286+1838A>T NP_000918.2:n.286+1838A>T
NM_001348944.2:c.286+1838A>T NP_001335873.1:n.286+1838A>T
NM_001348945.2:c.496+1838A>T NP_001335874.1:n.496+1838A>T