Canonical Allele Identifier: CA8205774
Gene: KCNG4 HGNC NCBI
ClinVar RCV:
RCV004186653
ClinVar Variation:
2346218
dbSNP:
574061788
gnomAD v2:
16:84270467 C / T
gnomAD v3:
16:84236861 C / T
gnomAD v4:
chr16-84236861-C-T
Joint Max Group AF 0.00011812 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00012091 (NFE)
MyVariant.info:
GRCh38 chr16:g.84236861C>T
GRCh37 chr16:g.84270467C>T
Revel Score:
ENST00000308251 (MANE Select) 0.348
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84236861C>T , CM000678.2:g.84236861C>T GRCh38
NC_000016.9:g.84270467C>T , CM000678.1:g.84270467C>T GRCh37
NC_000016.8:g.82827968C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000308251.6:c.625G>A MANE Select ENSP00000312129.4:p.Glu209Lys
ENST00000308251.5:c.625G>A ENSP00000312129.4:p.Glu209Lys
ENST00000568181.1:c.625G>A ENSP00000457897.1:p.Glu209Lys
NM_172347.2:c.625G>A NP_758857.1:p.Glu209Lys
NM_172347.3:c.625G>A MANE Select NP_758857.1:p.Glu209Lys
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