Canonical Allele Identifier: CA4327819

Gene: ABCB1

Linked Data

• dbSNP Id: rs763003511
• ExAC: 7:87144562 G / A
• gnomAD v4: 7-87515246-G-A
• MyVariant Identifiers: chr7:g.87144562G>A (hg19) ; chr7:g.87515246G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87515246G>A , CM000669.2:g.87515246G>A	GRCh38
NC_000007.13:g.87144562G>A , CM000669.1:g.87144562G>A	GRCh37
NC_000007.12:g.86982498G>A	NCBI36
NG_011513.1:g.203003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.3267C>T	ENSP00000265724.3:p.Pro1089=
ENST00000622132.5:c.3267C>T MANE Select	ENSP00000478255.1:p.Pro1089=
ENST00000265724.7:c.3267C>T	ENSP00000265724.3:p.Pro1089=
ENST00000475929.5:n.423C>T
ENST00000488737.6:n.909C>T
ENST00000496821.5:n.895C>T
ENST00000543898.5:c.3075C>T	ENSP00000444095.1:p.Pro1025=
ENST00000622132.4:c.3267C>T	ENSP00000478255.1:p.Pro1089=
NM_000927.4:c.3267C>T	NP_000918.2:p.Pro1089=
NM_001348944.1:c.3267C>T	NP_001335873.1:p.Pro1089=
NM_001348945.1:c.3477C>T	NP_001335874.1:p.Pro1159=
NM_001348946.1:c.3267C>T	NP_001335875.1:p.Pro1089=
NM_001348946.2:c.3267C>T MANE Select	NP_001335875.1:p.Pro1089=
NM_000927.5:c.3267C>T	NP_000918.2:p.Pro1089=
NM_001348944.2:c.3267C>T	NP_001335873.1:p.Pro1089=
NM_001348945.2:c.3477C>T	NP_001335874.1:p.Pro1159=