Canonical Allele Identifier: CA12304914
Gene:
COSMIC:
COSN14787013
dbSNP:
4273712
gnomAD v2:
6:126964510 A / G
gnomAD v3:
6:126643364 A / G
gnomAD v4:
chr6-126643364-A-G
Joint Max Group AF 0.45679599 (EAS)
Genomes Max Group AF 0.44261729 (EAS)
Exomes Max Group AF 0.45941669 (AMR)
MyVariant.info:
GRCh38 chr6:g.126643364A>G
GRCh37 chr6:g.126964510A>G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.126643364A>G , CM000668.2:g.126643364A>G GRCh38
NC_000006.11:g.126964510A>G , CM000668.1:g.126964510A>G GRCh37
NC_000006.10:g.127006203A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650727.1:n.1167-21491T>C
ENST00000651326.1:n.694-39899T>C
ENST00000652545.1:n.1477-21491T>C
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