Canonical Allele Identifier: CA4328724
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs747238624
gnomAD v2: 7-87229487-C-A
gnomAD v3: 7-87600171-C-A
gnomAD v4: 7-87600171-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87600171C>A , CM000669.2:g.87600171C>A GRCh38
NC_000007.13:g.87229487C>A , CM000669.1:g.87229487C>A GRCh37
NC_000007.12:g.87067423C>A NCBI36
NG_011513.1:g.118078G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.14G>T ENSP00000265724.3:p.Gly5Val
ENST00000622132.5:c.14G>T MANE Select ENSP00000478255.1:p.Gly5Val
ENST00000265724.7:c.14G>T ENSP00000265724.3:p.Gly5Val
ENST00000416177.1:c.14G>T ENSP00000399419.1:p.Gly5Val
ENST00000543898.5:c.14G>T ENSP00000444095.1:p.Gly5Val
ENST00000622132.4:c.14G>T ENSP00000478255.1:p.Gly5Val
NM_000927.4:c.14G>T NP_000918.2:p.Gly5Val
NM_001348944.1:c.14G>T NP_001335873.1:p.Gly5Val
NM_001348945.1:c.224G>T NP_001335874.1:p.Gly75Val
NM_001348946.1:c.14G>T NP_001335875.1:p.Gly5Val
NM_001348946.2:c.14G>T MANE Select NP_001335875.1:p.Gly5Val
NM_000927.5:c.14G>T NP_000918.2:p.Gly5Val
NM_001348944.2:c.14G>T NP_001335873.1:p.Gly5Val
NM_001348945.2:c.224G>T NP_001335874.1:p.Gly75Val