Canonical Allele Identifier: CA368062931

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 829471
• ClinVar RCV Id: RCV001029393
• dbSNP Id: rs1584871639
• MyVariant Identifiers: chr7:g.87179612T>A (hg19) ; chr7:g.87550296T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550296T>A , CM000669.2:g.87550296T>A	GRCh38
NC_000007.13:g.87179612T>A , CM000669.1:g.87179612T>A	GRCh37
NC_000007.12:g.87017548T>A	NCBI36
NG_011513.1:g.167953A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1225A>T	ENSP00000265724.3:p.Ile409Phe
ENST00000622132.5:c.1225A>T MANE Select	ENSP00000478255.1:p.Ile409Phe
ENST00000265724.7:c.1225A>T	ENSP00000265724.3:p.Ile409Phe
ENST00000543898.5:c.1033A>T	ENSP00000444095.1:p.Ile345Phe
ENST00000622132.4:c.1225A>T	ENSP00000478255.1:p.Ile409Phe
NM_000927.4:c.1225A>T	NP_000918.2:p.Ile409Phe
NM_001348944.1:c.1225A>T	NP_001335873.1:p.Ile409Phe
NM_001348945.1:c.1435A>T	NP_001335874.1:p.Ile479Phe
NM_001348946.1:c.1225A>T	NP_001335875.1:p.Ile409Phe
NM_001348946.2:c.1225A>T MANE Select	NP_001335875.1:p.Ile409Phe
NM_000927.5:c.1225A>T	NP_000918.2:p.Ile409Phe
NM_001348944.2:c.1225A>T	NP_001335873.1:p.Ile409Phe
NM_001348945.2:c.1435A>T	NP_001335874.1:p.Ile479Phe