ClinGen Allele Registry
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Canonical Allele Identifier:
CA43716138
Gene: KCNS3
HGNC
NCBI
Linked Data
dbSNP Id:
rs16984239
gnomAD v2:
2-18234446-C-A
gnomAD v3:
2-18053180-C-A
gnomAD v4:
2-18053180-C-A
MyVariant Identifiers:
chr2:g.18234446C>A (hg19)
chr2:g.18053180C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.18053180C>A , CM000664.2:g.18053180C>A
GRCh38
NC_000002.11:g.18234446C>A , CM000664.1:g.18234446C>A
GRCh37
NC_000002.10:g.18097927C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000465292.5:n.306-117210C>A
Search 100 bp 5'
Search 100 bp 3'