Canonical Allele Identifier: CA12592350
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs7787082
gnomAD v2: 7-87157051-G-A
gnomAD v3: 7-87527735-G-A
gnomAD v4: 7-87527735-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87527735G>A , CM000669.2:g.87527735G>A GRCh38
NC_000007.13:g.87157051G>A , CM000669.1:g.87157051G>A GRCh37
NC_000007.12:g.86994987G>A NCBI36
NG_011513.1:g.190514C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.2685+3559C>T ENSP00000265724.3:n.2685+3559C>T
ENST00000622132.5:c.2685+3559C>T MANE Select ENSP00000478255.1:n.2685+3559C>T
ENST00000265724.7:c.2685+3559C>T ENSP00000265724.3:n.2685+3559C>T
ENST00000488737.6:n.327+3559C>T
ENST00000496821.5:n.313+3559C>T
ENST00000543898.5:c.2493+3559C>T ENSP00000444095.1:n.2493+3559C>T
ENST00000622132.4:c.2685+3559C>T ENSP00000478255.1:n.2685+3559C>T
NM_000927.4:c.2685+3559C>T NP_000918.2:n.2685+3559C>T
NM_001348944.1:c.2685+3559C>T NP_001335873.1:n.2685+3559C>T
NM_001348945.1:c.2895+3559C>T NP_001335874.1:n.2895+3559C>T
NM_001348946.1:c.2685+3559C>T NP_001335875.1:n.2685+3559C>T
NM_001348946.2:c.2685+3559C>T MANE Select NP_001335875.1:n.2685+3559C>T
NM_000927.5:c.2685+3559C>T NP_000918.2:n.2685+3559C>T
NM_001348944.2:c.2685+3559C>T NP_001335873.1:n.2685+3559C>T
NM_001348945.2:c.2895+3559C>T NP_001335874.1:n.2895+3559C>T