Canonical Allele Identifier: CA11002450
Gene: KCNS3 HGNC NCBI
COSMIC:
COSN8311491 (not active)
MyVariant.info:
GRCh38 chr2:g.17933665C>T
GRCh37 chr2:g.18114932C>T
gnomAD v2:
2:18114932 C / T
gnomAD v3:
2:17933665 C / T
gnomAD v4:
chr2-17933665-C-T
Joint Max Group AF 0.37722223 (MID)
Genomes Max Group AF 0.36617773 (EAS)
dbSNP:
1031771
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.17933665C>T , CM000664.2:g.17933665C>T GRCh38
NC_000002.11:g.18114932C>T , CM000664.1:g.18114932C>T GRCh37
NC_000002.10:g.17978413C>T NCBI36
NG_012873.1:g.59988C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000465292.5:n.305+15794C>T
Search 100 bp 5'
Search 100 bp 3'