Canonical Allele Identifier: CA368054215

Gene: ABCB1

Linked Data

• dbSNP Id: rs2117129702
• gnomAD v4: 7-87531298-C-T
• MyVariant Identifiers: chr7:g.87160614C>T (hg19) ; chr7:g.87531298C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87531298C>T , CM000669.2:g.87531298C>T	GRCh38
NC_000007.13:g.87160614C>T , CM000669.1:g.87160614C>T	GRCh37
NC_000007.12:g.86998550C>T	NCBI36
NG_011513.1:g.186951G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.2681G>A	ENSP00000265724.3:p.Gly894Glu
ENST00000622132.5:c.2681G>A MANE Select	ENSP00000478255.1:p.Gly894Glu
ENST00000265724.7:c.2681G>A	ENSP00000265724.3:p.Gly894Glu
ENST00000488737.6:n.323G>A
ENST00000496821.5:n.309G>A
ENST00000543898.5:c.2489G>A	ENSP00000444095.1:p.Gly830Glu
ENST00000622132.4:c.2681G>A	ENSP00000478255.1:p.Gly894Glu
NM_000927.4:c.2681G>A	NP_000918.2:p.Gly894Glu
NM_001348944.1:c.2681G>A	NP_001335873.1:p.Gly894Glu
NM_001348945.1:c.2891G>A	NP_001335874.1:p.Gly964Glu
NM_001348946.1:c.2681G>A	NP_001335875.1:p.Gly894Glu
NM_001348946.2:c.2681G>A MANE Select	NP_001335875.1:p.Gly894Glu
NM_000927.5:c.2681G>A	NP_000918.2:p.Gly894Glu
NM_001348944.2:c.2681G>A	NP_001335873.1:p.Gly894Glu
NM_001348945.2:c.2891G>A	NP_001335874.1:p.Gly964Glu