Canonical Allele Identifier: CA368050233

Gene: ABCB1

Linked Data

• dbSNP Id: rs1815470928
• gnomAD v4: 7-87520836-G-A
• MyVariant Identifiers: chr7:g.87150152G>A (hg19) ; chr7:g.87520836G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87520836G>A , CM000669.2:g.87520836G>A	GRCh38
NC_000007.13:g.87150152G>A , CM000669.1:g.87150152G>A	GRCh37
NC_000007.12:g.86988088G>A	NCBI36
NG_011513.1:g.197413C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2726C>T	ENSP00000265724.3:p.Ser909Phe
ENST00000622132.5:c.2726C>T MANE Select	ENSP00000478255.1:p.Ser909Phe
ENST00000265724.7:c.2726C>T	ENSP00000265724.3:p.Ser909Phe
ENST00000483831.1:n.284C>T
ENST00000488737.6:n.368C>T
ENST00000496821.5:n.354C>T
ENST00000543898.5:c.2534C>T	ENSP00000444095.1:p.Ser845Phe
ENST00000622132.4:c.2726C>T	ENSP00000478255.1:p.Ser909Phe
NM_000927.4:c.2726C>T	NP_000918.2:p.Ser909Phe
NM_001348944.1:c.2726C>T	NP_001335873.1:p.Ser909Phe
NM_001348945.1:c.2936C>T	NP_001335874.1:p.Ser979Phe
NM_001348946.1:c.2726C>T	NP_001335875.1:p.Ser909Phe
NM_001348946.2:c.2726C>T MANE Select	NP_001335875.1:p.Ser909Phe
NM_000927.5:c.2726C>T	NP_000918.2:p.Ser909Phe
NM_001348944.2:c.2726C>T	NP_001335873.1:p.Ser909Phe
NM_001348945.2:c.2936C>T	NP_001335874.1:p.Ser979Phe