Canonical Allele Identifier: CA160282237
Gene:
COSMIC:
COSN17133383 (not active)
COSN17138807 (not active)
COSN17139722 (not active)
COSN17141421 (not active)
COSN17146397 (not active)
COSN17149053 (not active)
COSN17150840 (not active)
COSN17152863 (not active)
MyVariant.info:
GRCh38 chr7:g.67594280T>C
GRCh37 chr7:g.67059267T>C
gnomAD v2:
7:67059267 T / C
gnomAD v3:
7:67594280 T / C
gnomAD v4:
chr7-67594280-T-C
Joint Max Group AF 0.240251 (AMR)
Genomes Max Group AF 0.240251 (AMR)
dbSNP:
10263639
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.67594280T>C , CM000669.2:g.67594280T>C GRCh38
NC_000007.13:g.67059267T>C , CM000669.1:g.67059267T>C GRCh37
NC_000007.12:g.66696702T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745238.2:n.163+8031A>G
Search 100 bp 5'
Search 100 bp 3'