Canonical Allele Identifier: CA2683608380

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87550144-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550144G>A , CM000669.2:g.87550144G>A	GRCh38
NC_000007.13:g.87179460G>A , CM000669.1:g.87179460G>A	GRCh37
NC_000007.12:g.87017396G>A	NCBI36
NG_011513.1:g.168105C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1350+27C>T	ENSP00000265724.3:n.1350+27C>T
ENST00000622132.5:c.1350+27C>T MANE Select	ENSP00000478255.1:n.1350+27C>T
ENST00000265724.7:c.1350+27C>T	ENSP00000265724.3:n.1350+27C>T
ENST00000482527.1:n.15C>T
ENST00000543898.5:c.1158+27C>T	ENSP00000444095.1:n.1158+27C>T
ENST00000622132.4:c.1350+27C>T	ENSP00000478255.1:n.1350+27C>T
NM_000927.4:c.1350+27C>T	NP_000918.2:n.1350+27C>T
NM_001348944.1:c.1350+27C>T	NP_001335873.1:n.1350+27C>T
NM_001348945.1:c.1560+27C>T	NP_001335874.1:n.1560+27C>T
NM_001348946.1:c.1350+27C>T	NP_001335875.1:n.1350+27C>T
NM_001348946.2:c.1350+27C>T MANE Select	NP_001335875.1:n.1350+27C>T
NM_000927.5:c.1350+27C>T	NP_000918.2:n.1350+27C>T
NM_001348944.2:c.1350+27C>T	NP_001335873.1:n.1350+27C>T
NM_001348945.2:c.1560+27C>T	NP_001335874.1:n.1560+27C>T