Canonical Allele Identifier: CA4327823

Gene: ABCB1

Linked Data

• dbSNP Id: rs199943026
• ExAC: 7:87144576 G / A
• gnomAD v2: 7-87144576-G-A
• gnomAD v4: 7-87515260-G-A
• COSMIC: COSM69485
• MyVariant Identifiers: chr7:g.87144576G>A (hg19) ; chr7:g.87515260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87515260G>A , CM000669.2:g.87515260G>A	GRCh38
NC_000007.13:g.87144576G>A , CM000669.1:g.87144576G>A	GRCh37
NC_000007.12:g.86982512G>A	NCBI36
NG_011513.1:g.202989C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.3253C>T	ENSP00000265724.3:p.Arg1085Trp
ENST00000622132.5:c.3253C>T MANE Select	ENSP00000478255.1:p.Arg1085Trp
ENST00000265724.7:c.3253C>T	ENSP00000265724.3:p.Arg1085Trp
ENST00000475929.5:n.409C>T
ENST00000488737.6:n.895C>T
ENST00000496821.5:n.881C>T
ENST00000543898.5:c.3061C>T	ENSP00000444095.1:p.Arg1021Trp
ENST00000622132.4:c.3253C>T	ENSP00000478255.1:p.Arg1085Trp
NM_000927.4:c.3253C>T	NP_000918.2:p.Arg1085Trp
NM_001348944.1:c.3253C>T	NP_001335873.1:p.Arg1085Trp
NM_001348945.1:c.3463C>T	NP_001335874.1:p.Arg1155Trp
NM_001348946.1:c.3253C>T	NP_001335875.1:p.Arg1085Trp
NM_001348946.2:c.3253C>T MANE Select	NP_001335875.1:p.Arg1085Trp
NM_000927.5:c.3253C>T	NP_000918.2:p.Arg1085Trp
NM_001348944.2:c.3253C>T	NP_001335873.1:p.Arg1085Trp
NM_001348945.2:c.3463C>T	NP_001335874.1:p.Arg1155Trp