Canonical Allele Identifier: CA4328374
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs200870777
gnomAD v2: 7-87179792-C-T
gnomAD v4: 7-87550476-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550476C>T , CM000669.2:g.87550476C>T GRCh38
NC_000007.13:g.87179792C>T , CM000669.1:g.87179792C>T GRCh37
NC_000007.12:g.87017728C>T NCBI36
NG_011513.1:g.167773G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1216G>A ENSP00000265724.3:p.Glu406Lys
ENST00000622132.5:c.1216G>A MANE Select ENSP00000478255.1:p.Glu406Lys
ENST00000265724.7:c.1216G>A ENSP00000265724.3:p.Glu406Lys
ENST00000543898.5:c.1024G>A ENSP00000444095.1:p.Glu342Lys
ENST00000622132.4:c.1216G>A ENSP00000478255.1:p.Glu406Lys
NM_000927.4:c.1216G>A NP_000918.2:p.Glu406Lys
NM_001348944.1:c.1216G>A NP_001335873.1:p.Glu406Lys
NM_001348945.1:c.1426G>A NP_001335874.1:p.Glu476Lys
NM_001348946.1:c.1216G>A NP_001335875.1:p.Glu406Lys
NM_001348946.2:c.1216G>A MANE Select NP_001335875.1:p.Glu406Lys
NM_000927.5:c.1216G>A NP_000918.2:p.Glu406Lys
NM_001348944.2:c.1216G>A NP_001335873.1:p.Glu406Lys
NM_001348945.2:c.1426G>A NP_001335874.1:p.Glu476Lys