Canonical Allele Identifier: CA368058885

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 828706
• ClinVar RCV Id: RCV001028616
• dbSNP Id: rs750020655
• MyVariant Identifiers: chr7:g.87174206C>T (hg19) ; chr7:g.87544890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87544890C>T , CM000669.2:g.87544890C>T	GRCh38
NC_000007.13:g.87174206C>T , CM000669.1:g.87174206C>T	GRCh37
NC_000007.12:g.87012142C>T	NCBI36
NG_011513.1:g.173359G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.1997G>A	ENSP00000265724.3:p.Arg666Lys
ENST00000622132.5:c.1997G>A MANE Select	ENSP00000478255.1:p.Arg666Lys
ENST00000265724.7:c.1997G>A	ENSP00000265724.3:p.Arg666Lys
ENST00000543898.5:c.1805G>A	ENSP00000444095.1:p.Arg602Lys
ENST00000622132.4:c.1997G>A	ENSP00000478255.1:p.Arg666Lys
NM_000927.4:c.1997G>A	NP_000918.2:p.Arg666Lys
NM_001348944.1:c.1997G>A	NP_001335873.1:p.Arg666Lys
NM_001348945.1:c.2207G>A	NP_001335874.1:p.Arg736Lys
NM_001348946.1:c.1997G>A	NP_001335875.1:p.Arg666Lys
NM_001348946.2:c.1997G>A MANE Select	NP_001335875.1:p.Arg666Lys
NM_000927.5:c.1997G>A	NP_000918.2:p.Arg666Lys
NM_001348944.2:c.1997G>A	NP_001335873.1:p.Arg666Lys
NM_001348945.2:c.2207G>A	NP_001335874.1:p.Arg736Lys