Canonical Allele Identifier: CA4328714

Gene: ABCB1

Linked Data

• dbSNP Id: rs41304191
• ExAC: 7:87229446 G / C
• gnomAD v2: 7-87229446-G-C
• gnomAD v4: 7-87600130-G-C
• MyVariant Identifiers: chr7:g.87229446G>C (hg19) ; chr7:g.87600130G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87600130G>C , CM000669.2:g.87600130G>C	GRCh38
NC_000007.13:g.87229446G>C , CM000669.1:g.87229446G>C	GRCh37
NC_000007.12:g.87067382G>C	NCBI36
NG_011513.1:g.118119C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.55C>G	ENSP00000265724.3:p.Leu19Val
ENST00000622132.5:c.55C>G MANE Select	ENSP00000478255.1:p.Leu19Val
ENST00000265724.7:c.55C>G	ENSP00000265724.3:p.Leu19Val
ENST00000416177.1:c.55C>G	ENSP00000399419.1:p.Leu19Val
ENST00000543898.5:c.55C>G	ENSP00000444095.1:p.Leu19Val
ENST00000622132.4:c.55C>G	ENSP00000478255.1:p.Leu19Val
NM_000927.4:c.55C>G	NP_000918.2:p.Leu19Val
NM_001348944.1:c.55C>G	NP_001335873.1:p.Leu19Val
NM_001348945.1:c.265C>G	NP_001335874.1:p.Leu89Val
NM_001348946.1:c.55C>G	NP_001335875.1:p.Leu19Val
NM_001348946.2:c.55C>G MANE Select	NP_001335875.1:p.Leu19Val
NM_000927.5:c.55C>G	NP_000918.2:p.Leu19Val
NM_001348944.2:c.55C>G	NP_001335873.1:p.Leu19Val
NM_001348945.2:c.265C>G	NP_001335874.1:p.Leu89Val