Canonical Allele Identifier: CA4328558

Gene: ABCB1

Linked Data

• dbSNP Id: rs1128500
• ExAC: 7:87195548 G / A
• gnomAD v2: 7-87195548-G-A
• gnomAD v4: 7-87566232-G-A
• MyVariant Identifiers: chr7:g.87195548G>A (hg19) ; chr7:g.87566232G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87566232G>A , CM000669.2:g.87566232G>A	GRCh38
NC_000007.13:g.87195548G>A , CM000669.1:g.87195548G>A	GRCh37
NC_000007.12:g.87033484G>A	NCBI36
NG_011513.1:g.152017C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.540C>T	ENSP00000265724.3:p.Ser180=
ENST00000622132.5:c.540C>T MANE Select	ENSP00000478255.1:p.Ser180=
ENST00000265724.7:c.540C>T	ENSP00000265724.3:p.Ser180=
ENST00000543898.5:c.348C>T	ENSP00000444095.1:p.Ser116=
ENST00000622132.4:c.540C>T	ENSP00000478255.1:p.Ser180=
NM_000927.4:c.540C>T	NP_000918.2:p.Ser180=
NM_001348944.1:c.540C>T	NP_001335873.1:p.Ser180=
NM_001348945.1:c.750C>T	NP_001335874.1:p.Ser250=
NM_001348946.1:c.540C>T	NP_001335875.1:p.Ser180=
NM_001348946.2:c.540C>T MANE Select	NP_001335875.1:p.Ser180=
NM_000927.5:c.540C>T	NP_000918.2:p.Ser180=
NM_001348944.2:c.540C>T	NP_001335873.1:p.Ser180=
NM_001348945.2:c.750C>T	NP_001335874.1:p.Ser250=