Canonical Allele Identifier: CA2683609409

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87585458-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87585458G>A , CM000669.2:g.87585458G>A	GRCh38
NC_000007.13:g.87214774G>A , CM000669.1:g.87214774G>A	GRCh37
NC_000007.12:g.87052710G>A	NCBI36
NG_011513.1:g.132791C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.286+54C>T	ENSP00000265724.3:n.286+54C>T
ENST00000622132.5:c.286+54C>T MANE Select	ENSP00000478255.1:n.286+54C>T
ENST00000265724.7:c.286+54C>T	ENSP00000265724.3:n.286+54C>T
ENST00000543898.5:c.286+54C>T	ENSP00000444095.1:n.286+54C>T
ENST00000622132.4:c.286+54C>T	ENSP00000478255.1:n.286+54C>T
NM_000927.4:c.286+54C>T	NP_000918.2:n.286+54C>T
NM_001348944.1:c.286+54C>T	NP_001335873.1:n.286+54C>T
NM_001348945.1:c.496+54C>T	NP_001335874.1:n.496+54C>T
NM_001348946.1:c.286+54C>T	NP_001335875.1:n.286+54C>T
NM_001348946.2:c.286+54C>T MANE Select	NP_001335875.1:n.286+54C>T
NM_000927.5:c.286+54C>T	NP_000918.2:n.286+54C>T
NM_001348944.2:c.286+54C>T	NP_001335873.1:n.286+54C>T
NM_001348945.2:c.496+54C>T	NP_001335874.1:n.496+54C>T