Canonical Allele Identifier: CA368062427

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87550037-C-A
• COSMIC: COSM1092625
• MyVariant Identifiers: chr7:g.87179353C>A (hg19) ; chr7:g.87550037C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550037C>A , CM000669.2:g.87550037C>A	GRCh38
NC_000007.13:g.87179353C>A , CM000669.1:g.87179353C>A	GRCh37
NC_000007.12:g.87017289C>A	NCBI36
NG_011513.1:g.168212G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1368G>T	ENSP00000265724.3:p.Gln456His
ENST00000622132.5:c.1368G>T MANE Select	ENSP00000478255.1:p.Gln456His
ENST00000265724.7:c.1368G>T	ENSP00000265724.3:p.Gln456His
ENST00000482527.1:n.122G>T
ENST00000543898.5:c.1176G>T	ENSP00000444095.1:p.Gln392His
ENST00000622132.4:c.1368G>T	ENSP00000478255.1:p.Gln456His
NM_000927.4:c.1368G>T	NP_000918.2:p.Gln456His
NM_001348944.1:c.1368G>T	NP_001335873.1:p.Gln456His
NM_001348945.1:c.1578G>T	NP_001335874.1:p.Gln526His
NM_001348946.1:c.1368G>T	NP_001335875.1:p.Gln456His
NM_001348946.2:c.1368G>T MANE Select	NP_001335875.1:p.Gln456His
NM_000927.5:c.1368G>T	NP_000918.2:p.Gln456His
NM_001348944.2:c.1368G>T	NP_001335873.1:p.Gln456His
NM_001348945.2:c.1578G>T	NP_001335874.1:p.Gln526His