Canonical Allele Identifier: CA4328314
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs772482084
gnomAD v2: 7-87179321-C-T
gnomAD v4: 7-87550005-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550005C>T , CM000669.2:g.87550005C>T GRCh38
NC_000007.13:g.87179321C>T , CM000669.1:g.87179321C>T GRCh37
NC_000007.12:g.87017257C>T NCBI36
NG_011513.1:g.168244G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1400G>A ENSP00000265724.3:p.Arg467Gln
ENST00000622132.5:c.1400G>A MANE Select ENSP00000478255.1:p.Arg467Gln
ENST00000265724.7:c.1400G>A ENSP00000265724.3:p.Arg467Gln
ENST00000482527.1:n.154G>A
ENST00000543898.5:c.1208G>A ENSP00000444095.1:p.Arg403Gln
ENST00000622132.4:c.1400G>A ENSP00000478255.1:p.Arg467Gln
NM_000927.4:c.1400G>A NP_000918.2:p.Arg467Gln
NM_001348944.1:c.1400G>A NP_001335873.1:p.Arg467Gln
NM_001348945.1:c.1610G>A NP_001335874.1:p.Arg537Gln
NM_001348946.1:c.1400G>A NP_001335875.1:p.Arg467Gln
NM_001348946.2:c.1400G>A MANE Select NP_001335875.1:p.Arg467Gln
NM_000927.5:c.1400G>A NP_000918.2:p.Arg467Gln
NM_001348944.2:c.1400G>A NP_001335873.1:p.Arg467Gln
NM_001348945.2:c.1610G>A NP_001335874.1:p.Arg537Gln