Canonical Allele Identifier: CA1723621245
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs1814594926
gnomAD v4: 7-87503859-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87503859C>T , CM000669.2:g.87503859C>T GRCh38
NC_000007.13:g.87133175C>T , CM000669.1:g.87133175C>T GRCh37
NC_000007.12:g.86971111C>T NCBI36
NG_011513.1:g.214390G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.*384G>A ENSP00000265724.3:n.*384G>A
ENST00000622132.5:c.*384G>A MANE Select ENSP00000478255.1:n.*384G>A
ENST00000265724.7:c.*384G>A ENSP00000265724.3:n.*384G>A
ENST00000622132.4:c.*384G>A ENSP00000478255.1:n.*384G>A
NM_001348946.2:c.*384G>A MANE Select NP_001335875.1:n.*384G>A
NM_000927.5:c.*384G>A NP_000918.2:n.*384G>A
NM_001348944.2:c.*384G>A NP_001335873.1:n.*384G>A
NM_001348945.2:c.*384G>A NP_001335874.1:n.*384G>A
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