Canonical Allele Identifier: CA4327890

Gene: ABCB1

Linked Data

• dbSNP Id: rs374210543
• ExAC: 7:87145943 C / A
• gnomAD v2: 7-87145943-C-A
• MyVariant Identifiers: chr7:g.87145943C>A (hg19) ; chr7:g.87516627C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516627C>A , CM000669.2:g.87516627C>A	GRCh38
NC_000007.13:g.87145943C>A , CM000669.1:g.87145943C>A	GRCh37
NC_000007.12:g.86983879C>A	NCBI36
NG_011513.1:g.201622G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2966G>T	ENSP00000265724.3:p.Gly989Val
ENST00000622132.5:c.2966G>T MANE Select	ENSP00000478255.1:p.Gly989Val
ENST00000265724.7:c.2966G>T	ENSP00000265724.3:p.Gly989Val
ENST00000475929.5:n.122G>T
ENST00000483831.1:n.524G>T
ENST00000488737.6:n.608G>T
ENST00000496821.5:n.594G>T
ENST00000543898.5:c.2774G>T	ENSP00000444095.1:p.Gly925Val
ENST00000622132.4:c.2966G>T	ENSP00000478255.1:p.Gly989Val
NM_000927.4:c.2966G>T	NP_000918.2:p.Gly989Val
NM_001348944.1:c.2966G>T	NP_001335873.1:p.Gly989Val
NM_001348945.1:c.3176G>T	NP_001335874.1:p.Gly1059Val
NM_001348946.1:c.2966G>T	NP_001335875.1:p.Gly989Val
NM_001348946.2:c.2966G>T MANE Select	NP_001335875.1:p.Gly989Val
NM_000927.5:c.2966G>T	NP_000918.2:p.Gly989Val
NM_001348944.2:c.2966G>T	NP_001335873.1:p.Gly989Val
NM_001348945.2:c.3176G>T	NP_001335874.1:p.Gly1059Val