Canonical Allele Identifier: CA368054697
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87531362C>A , CM000669.2:g.87531362C>A GRCh38
NC_000007.13:g.87160678C>A , CM000669.1:g.87160678C>A GRCh37
NC_000007.12:g.86998614C>A NCBI36
NG_011513.1:g.186887G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2617G>T ENSP00000265724.3:p.Val873Phe
ENST00000622132.5:c.2617G>T MANE Select ENSP00000478255.1:p.Val873Phe
ENST00000265724.7:c.2617G>T ENSP00000265724.3:p.Val873Phe
ENST00000488737.6:n.259G>T
ENST00000496821.5:n.245G>T
ENST00000543898.5:c.2425G>T ENSP00000444095.1:p.Val809Phe
ENST00000622132.4:c.2617G>T ENSP00000478255.1:p.Val873Phe
NM_000927.4:c.2617G>T NP_000918.2:p.Val873Phe
NM_001348944.1:c.2617G>T NP_001335873.1:p.Val873Phe
NM_001348945.1:c.2827G>T NP_001335874.1:p.Val943Phe
NM_001348946.1:c.2617G>T NP_001335875.1:p.Val873Phe
NM_001348946.2:c.2617G>T MANE Select NP_001335875.1:p.Val873Phe
NM_000927.5:c.2617G>T NP_000918.2:p.Val873Phe
NM_001348944.2:c.2617G>T NP_001335873.1:p.Val873Phe
NM_001348945.2:c.2827G>T NP_001335874.1:p.Val943Phe