Canonical Allele Identifier: CA162101962

Gene: ABCB1

Linked Data

• dbSNP Id: rs926081975
• gnomAD v4: 7-87516637-T-C
• MyVariant Identifiers: chr7:g.87145953T>C (hg19) ; chr7:g.87516637T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516637T>C , CM000669.2:g.87516637T>C	GRCh38
NC_000007.13:g.87145953T>C , CM000669.1:g.87145953T>C	GRCh37
NC_000007.12:g.86983889T>C	NCBI36
NG_011513.1:g.201612A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2956A>G	ENSP00000265724.3:p.Met986Val
ENST00000622132.5:c.2956A>G MANE Select	ENSP00000478255.1:p.Met986Val
ENST00000265724.7:c.2956A>G	ENSP00000265724.3:p.Met986Val
ENST00000475929.5:n.112A>G
ENST00000483831.1:n.514A>G
ENST00000488737.6:n.598A>G
ENST00000496821.5:n.584A>G
ENST00000543898.5:c.2764A>G	ENSP00000444095.1:p.Met922Val
ENST00000622132.4:c.2956A>G	ENSP00000478255.1:p.Met986Val
NM_000927.4:c.2956A>G	NP_000918.2:p.Met986Val
NM_001348944.1:c.2956A>G	NP_001335873.1:p.Met986Val
NM_001348945.1:c.3166A>G	NP_001335874.1:p.Met1056Val
NM_001348946.1:c.2956A>G	NP_001335875.1:p.Met986Val
NM_001348946.2:c.2956A>G MANE Select	NP_001335875.1:p.Met986Val
NM_000927.5:c.2956A>G	NP_000918.2:p.Met986Val
NM_001348944.2:c.2956A>G	NP_001335873.1:p.Met986Val
NM_001348945.2:c.3166A>G	NP_001335874.1:p.Met1056Val