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Canonical Allele Identifier:
CA43716138
Gene: KCNS3
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.18053180C>A
GRCh37
chr2:g.18234446C>A
Linked Data - Sequence & Population
gnomAD v2:
2:18234446 C / A
gnomAD v3:
2:18053180 C / A
gnomAD v4:
chr2-18053180-C-A
Joint Max Group AF
0.29071743 (EAS)
Genomes Max Group AF
0.29071743 (EAS)
Linked Data - NCBI & NCI
dbSNP:
16984239
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'