Canonical Allele Identifier: CA368050311

Gene: ABCB1

Linked Data

• dbSNP Id: rs1441208915
• gnomAD v2: 7-87150175-T-C
• gnomAD v4: 7-87520859-T-C
• MyVariant Identifiers: chr7:g.87150175T>C (hg19) ; chr7:g.87520859T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87520859T>C , CM000669.2:g.87520859T>C	GRCh38
NC_000007.13:g.87150175T>C , CM000669.1:g.87150175T>C	GRCh37
NC_000007.12:g.86988111T>C	NCBI36
NG_011513.1:g.197390A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2703A>G	ENSP00000265724.3:p.Ile901Met
ENST00000622132.5:c.2703A>G MANE Select	ENSP00000478255.1:p.Ile901Met
ENST00000265724.7:c.2703A>G	ENSP00000265724.3:p.Ile901Met
ENST00000483831.1:n.261A>G
ENST00000488737.6:n.345A>G
ENST00000496821.5:n.331A>G
ENST00000543898.5:c.2511A>G	ENSP00000444095.1:p.Ile837Met
ENST00000622132.4:c.2703A>G	ENSP00000478255.1:p.Ile901Met
NM_000927.4:c.2703A>G	NP_000918.2:p.Ile901Met
NM_001348944.1:c.2703A>G	NP_001335873.1:p.Ile901Met
NM_001348945.1:c.2913A>G	NP_001335874.1:p.Ile971Met
NM_001348946.1:c.2703A>G	NP_001335875.1:p.Ile901Met
NM_001348946.2:c.2703A>G MANE Select	NP_001335875.1:p.Ile901Met
NM_000927.5:c.2703A>G	NP_000918.2:p.Ile901Met
NM_001348944.2:c.2703A>G	NP_001335873.1:p.Ile901Met
NM_001348945.2:c.2913A>G	NP_001335874.1:p.Ile971Met