Canonical Allele Identifier: CA368043651

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 828761
• ClinVar RCV Id: RCV001028672
• dbSNP Id: rs1377795423
• gnomAD v3: 7-87515278-C-T
• gnomAD v4: 7-87515278-C-T
• MyVariant Identifiers: chr7:g.87144594C>T (hg19) ; chr7:g.87515278C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87515278C>T , CM000669.2:g.87515278C>T	GRCh38
NC_000007.13:g.87144594C>T , CM000669.1:g.87144594C>T	GRCh37
NC_000007.12:g.86982530C>T	NCBI36
NG_011513.1:g.202971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.3235G>A	ENSP00000265724.3:p.Val1079Met
ENST00000622132.5:c.3235G>A MANE Select	ENSP00000478255.1:p.Val1079Met
ENST00000265724.7:c.3235G>A	ENSP00000265724.3:p.Val1079Met
ENST00000475929.5:n.391G>A
ENST00000488737.6:n.877G>A
ENST00000496821.5:n.863G>A
ENST00000543898.5:c.3043G>A	ENSP00000444095.1:p.Val1015Met
ENST00000622132.4:c.3235G>A	ENSP00000478255.1:p.Val1079Met
NM_000927.4:c.3235G>A	NP_000918.2:p.Val1079Met
NM_001348944.1:c.3235G>A	NP_001335873.1:p.Val1079Met
NM_001348945.1:c.3445G>A	NP_001335874.1:p.Val1149Met
NM_001348946.1:c.3235G>A	NP_001335875.1:p.Val1079Met
NM_001348946.2:c.3235G>A MANE Select	NP_001335875.1:p.Val1079Met
NM_000927.5:c.3235G>A	NP_000918.2:p.Val1079Met
NM_001348944.2:c.3235G>A	NP_001335873.1:p.Val1079Met
NM_001348945.2:c.3445G>A	NP_001335874.1:p.Val1149Met