Canonical Allele Identifier: CA368050213

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87520832-C-A
• MyVariant Identifiers: chr7:g.87150148C>A (hg19) ; chr7:g.87520832C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87520832C>A , CM000669.2:g.87520832C>A	GRCh38
NC_000007.13:g.87150148C>A , CM000669.1:g.87150148C>A	GRCh37
NC_000007.12:g.86988084C>A	NCBI36
NG_011513.1:g.197417G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2730G>T	ENSP00000265724.3:p.Leu910Phe
ENST00000622132.5:c.2730G>T MANE Select	ENSP00000478255.1:p.Leu910Phe
ENST00000265724.7:c.2730G>T	ENSP00000265724.3:p.Leu910Phe
ENST00000483831.1:n.288G>T
ENST00000488737.6:n.372G>T
ENST00000496821.5:n.358G>T
ENST00000543898.5:c.2538G>T	ENSP00000444095.1:p.Leu846Phe
ENST00000622132.4:c.2730G>T	ENSP00000478255.1:p.Leu910Phe
NM_000927.4:c.2730G>T	NP_000918.2:p.Leu910Phe
NM_001348944.1:c.2730G>T	NP_001335873.1:p.Leu910Phe
NM_001348945.1:c.2940G>T	NP_001335874.1:p.Leu980Phe
NM_001348946.1:c.2730G>T	NP_001335875.1:p.Leu910Phe
NM_001348946.2:c.2730G>T MANE Select	NP_001335875.1:p.Leu910Phe
NM_000927.5:c.2730G>T	NP_000918.2:p.Leu910Phe
NM_001348944.2:c.2730G>T	NP_001335873.1:p.Leu910Phe
NM_001348945.2:c.2940G>T	NP_001335874.1:p.Leu980Phe