Canonical Allele Identifier: CA2683610162
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87601004-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87601004G>T , CM000669.2:g.87601004G>T GRCh38
NC_000007.13:g.87230320G>T , CM000669.1:g.87230320G>T GRCh37
NC_000007.12:g.87068256G>T NCBI36
NG_011513.1:g.117245C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.-256C>A ENSP00000265724.3:n.-256C>A
ENST00000265724.7:c.-256C>A ENSP00000265724.3:n.-256C>A
ENST00000416177.1:c.-109C>A ENSP00000399419.1:n.-109C>A
ENST00000476862.1:n.391C>A
ENST00000543898.5:c.-256C>A ENSP00000444095.1:n.-256C>A
ENST00000622132.4:c.-256C>A ENSP00000478255.1:n.-256C>A
NM_000927.4:c.-256C>A NP_000918.2:n.-256C>A
NM_001348944.1:c.-109C>A NP_001335873.1:n.-109C>A
NM_001348945.1:c.102C>A NP_001335874.1:p.Phe34Leu
NM_000927.5:c.-256C>A NP_000918.2:n.-256C>A
NM_001348944.2:c.-109C>A NP_001335873.1:n.-109C>A
NM_001348945.2:c.102C>A NP_001335874.1:p.Phe34Leu