Canonical Allele Identifier: CA4328712
Gene: ABCB1 HGNC NCBI
COSMIC:
COSM1178512 (not active)
MyVariant.info:
GRCh38 chr7:g.87600124T>C
GRCh37 chr7:g.87229440T>C
Revel Score:
ENST00000265724 0.171
ENST00000543898 0.171
ENST00000416177 0.171
ENST00000394661 0.171
gnomAD v2:
7:87229440 T / C
gnomAD v3:
7:87600124 T / C
gnomAD v4:
chr7-87600124-T-C
Joint Max Group AF 0.10666123 (NFE)
Genomes Max Group AF 0.10598634 (NFE)
Exomes Max Group AF 0.10659144 (NFE)
ClinVar Allele:
817658
ClinVar RCV:
RCV001029248
RCV003973031
ClinVar Variation:
829327
dbSNP:
9282564
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87600124T>C , CM000669.2:g.87600124T>C GRCh38
NC_000007.13:g.87229440T>C , CM000669.1:g.87229440T>C GRCh37
NC_000007.12:g.87067376T>C NCBI36
NG_011513.1:g.118125A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.61A>G ENSP00000265724.3:p.Asn21Asp
ENST00000622132.5:c.61A>G MANE Select ENSP00000478255.1:p.Asn21Asp
ENST00000265724.7:c.61A>G ENSP00000265724.3:p.Asn21Asp
ENST00000416177.1:c.61A>G ENSP00000399419.1:p.Asn21Asp
ENST00000543898.5:c.61A>G ENSP00000444095.1:p.Asn21Asp
ENST00000622132.4:c.61A>G ENSP00000478255.1:p.Asn21Asp
NM_000927.4:c.61A>G NP_000918.2:p.Asn21Asp
NM_001348944.1:c.61A>G NP_001335873.1:p.Asn21Asp
NM_001348945.1:c.271A>G NP_001335874.1:p.Asn91Asp
NM_001348946.1:c.61A>G NP_001335875.1:p.Asn21Asp
NM_001348946.2:c.61A>G MANE Select NP_001335875.1:p.Asn21Asp
NM_000927.5:c.61A>G NP_000918.2:p.Asn21Asp
NM_001348944.2:c.61A>G NP_001335873.1:p.Asn21Asp
NM_001348945.2:c.271A>G NP_001335874.1:p.Asn91Asp
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