Canonical Allele Identifier: CA16253215
Gene:
COSMIC:
COSN6592218 (not active)
COSN20342510 (not active)
MyVariant.info:
GRCh38 chr6:g.7695740G>A
GRCh37 chr6:g.7695973G>A
gnomAD v2:
6:7695973 G / A
gnomAD v3:
6:7695740 G / A
gnomAD v4:
chr6-7695740-G-A
Joint Max Group AF 0.53425153 (SAS)
Genomes Max Group AF 0.53425153 (SAS)
dbSNP:
1885486
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7695740G>A , CM000668.2:g.7695740G>A GRCh38
NC_000006.11:g.7695973G>A , CM000668.1:g.7695973G>A GRCh37
NC_000006.10:g.7640972G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926436.1:n.311-2247G>A
XR_926437.1:n.311-2247G>A
XR_926436.3:n.348-2247G>A
XR_926437.3:n.348-2247G>A
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