Canonical Allele Identifier: CA225599970
Gene:
COSMIC:
COSN16224411 (not active)
MyVariant.info:
GRCh38 chr11:g.80600627A>G
GRCh37 chr11:g.80311671A>G
gnomAD v2:
11:80311671 A / G
gnomAD v3:
11:80600627 A / G
gnomAD v4:
chr11-80600627-A-G
Joint Max Group AF 0.87492951 (EAS)
Genomes Max Group AF 0.87492951 (EAS)
dbSNP:
2140930
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.80600627A>G , CM000673.2:g.80600627A>G GRCh38
NC_000011.9:g.80311671A>G , CM000673.1:g.80311671A>G GRCh37
NC_000011.8:g.79989319A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_247272.2:n.125-84789T>C
Search 100 bp 5'
Search 100 bp 3'