Canonical Allele Identifier: CA179699
Gene: ABCB1 HGNC NCBI
CIViC:
CA179699
MyVariant.info:
GRCh38 chr7:g.87531302A>C
GRCh37 chr7:g.87160618A>C
Revel Score:
ENST00000543174 0.277
ENST00000265724 0.277
ENST00000543898 0.277
gnomAD v2:
7:87160618 A / C
gnomAD v3:
7:87531302 A / C
gnomAD v4:
chr7-87531302-A-C
Joint Max Group AF 0.9116922 (AFR)
Genomes Max Group AF 0.90282467 (AFR)
Exomes Max Group AF 0.91740803 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87531302A>C , CM000669.2:g.87531302A>C GRCh38
NC_000007.13:g.87160618A>C , CM000669.1:g.87160618A>C GRCh37
NC_000007.12:g.86998554A>C NCBI36
NG_011513.1:g.186947T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2677T>G ENSP00000265724.3:p.Ser893Ala
ENST00000622132.5:c.2677T>G MANE Select ENSP00000478255.1:p.Ser893Ala
ENST00000265724.7:c.2677T>G ENSP00000265724.3:p.Ser893Ala
ENST00000488737.6:n.319T>G
ENST00000496821.5:n.305T>G
ENST00000543898.5:c.2485T>G ENSP00000444095.1:p.Ser829Ala
ENST00000622132.4:c.2677T>G ENSP00000478255.1:p.Ser893Ala
NM_000927.4:c.2677T>G NP_000918.2:p.Ser893Ala
NM_001348944.1:c.2677T>G NP_001335873.1:p.Ser893Ala
NM_001348945.1:c.2887T>G NP_001335874.1:p.Ser963Ala
NM_001348946.1:c.2677T>G NP_001335875.1:p.Ser893Ala
NM_001348946.2:c.2677T>G MANE Select NP_001335875.1:p.Ser893Ala
NM_000927.5:c.2677T>G NP_000918.2:p.Ser893Ala
NM_001348944.2:c.2677T>G NP_001335873.1:p.Ser893Ala
NM_001348945.2:c.2887T>G NP_001335874.1:p.Ser963Ala
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