Canonical Allele Identifier: CA368062976

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 829463
• ClinVar RCV Id: RCV001029385
• dbSNP Id: rs746946995
• MyVariant Identifiers: chr7:g.87179800G>C (hg19) ; chr7:g.87550484G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550484G>C , CM000669.2:g.87550484G>C	GRCh38
NC_000007.13:g.87179800G>C , CM000669.1:g.87179800G>C	GRCh37
NC_000007.12:g.87017736G>C	NCBI36
NG_011513.1:g.167765C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1208C>G	ENSP00000265724.3:p.Ser403Cys
ENST00000622132.5:c.1208C>G MANE Select	ENSP00000478255.1:p.Ser403Cys
ENST00000265724.7:c.1208C>G	ENSP00000265724.3:p.Ser403Cys
ENST00000543898.5:c.1016C>G	ENSP00000444095.1:p.Ser339Cys
ENST00000622132.4:c.1208C>G	ENSP00000478255.1:p.Ser403Cys
NM_000927.4:c.1208C>G	NP_000918.2:p.Ser403Cys
NM_001348944.1:c.1208C>G	NP_001335873.1:p.Ser403Cys
NM_001348945.1:c.1418C>G	NP_001335874.1:p.Ser473Cys
NM_001348946.1:c.1208C>G	NP_001335875.1:p.Ser403Cys
NM_001348946.2:c.1208C>G MANE Select	NP_001335875.1:p.Ser403Cys
NM_000927.5:c.1208C>G	NP_000918.2:p.Ser403Cys
NM_001348944.2:c.1208C>G	NP_001335873.1:p.Ser403Cys
NM_001348945.2:c.1418C>G	NP_001335874.1:p.Ser473Cys