Canonical Allele Identifier: CA2578929927
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87515131-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87515131T>A , CM000669.2:g.87515131T>A GRCh38
NC_000007.13:g.87144447T>A , CM000669.1:g.87144447T>A GRCh37
NC_000007.12:g.86982383T>A NCBI36
NG_011513.1:g.203118A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.3282+100A>T ENSP00000265724.3:n.3282+100A>T
ENST00000622132.5:c.3282+100A>T MANE Select ENSP00000478255.1:n.3282+100A>T
ENST00000265724.7:c.3282+100A>T ENSP00000265724.3:n.3282+100A>T
ENST00000475929.5:n.438+100A>T
ENST00000488737.6:n.924+100A>T
ENST00000543898.5:c.3090+100A>T ENSP00000444095.1:n.3090+100A>T
ENST00000622132.4:c.3282+100A>T ENSP00000478255.1:n.3282+100A>T
NM_000927.4:c.3282+100A>T NP_000918.2:n.3282+100A>T
NM_001348944.1:c.3282+100A>T NP_001335873.1:n.3282+100A>T
NM_001348945.1:c.3492+100A>T NP_001335874.1:n.3492+100A>T
NM_001348946.1:c.3282+100A>T NP_001335875.1:n.3282+100A>T
NM_001348946.2:c.3282+100A>T MANE Select NP_001335875.1:n.3282+100A>T
NM_000927.5:c.3282+100A>T NP_000918.2:n.3282+100A>T
NM_001348944.2:c.3282+100A>T NP_001335873.1:n.3282+100A>T
NM_001348945.2:c.3492+100A>T NP_001335874.1:n.3492+100A>T