ClinGen Allele Registry
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Canonical Allele Identifier:
CA11059176
Gene: KCNS3
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.18062268A>C
GRCh37
chr2:g.18243534A>C
Linked Data - Sequence & Population
gnomAD v2:
2:18243534 A / C
gnomAD v3:
2:18062268 A / C
gnomAD v4:
chr2-18062268-A-C
Joint Max Group AF
0.7891427 (AFR)
Genomes Max Group AF
0.7891427 (AFR)
Linked Data - NCBI & NCI
dbSNP:
4075511
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.18062268A>C , CM000664.2:g.18062268A>C
GRCh38
NC_000002.11:g.18243534A>C , CM000664.1:g.18243534A>C
GRCh37
NC_000002.10:g.18107015A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000465292.5:n.306-108122A>C
Search 100 bp 5'
Search 100 bp 3'