Canonical Allele Identifier: CA8709163
Gene: SCN4A HGNC NCBI
ClinVar RCV:
RCV000480061
RCV002056808
ClinVar Variation:
423961
COSMIC:
COSN215158
dbSNP:
377552760
gnomAD v2:
17:62022347 T / C
gnomAD v3:
17:63944987 T / C
gnomAD v4:
chr17-63944987-T-C
Joint Max Group AF 0.00011535 (AMR)
Genomes Max Group AF 0.00012408 (NFE)
Exomes Max Group AF 0.0001207 (AMR)
MyVariant.info:
GRCh38 chr17:g.63944987T>C
GRCh37 chr17:g.62022347T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944987T>C , CM000679.2:g.63944987T>C GRCh38
NC_000017.10:g.62022347T>C , CM000679.1:g.62022347T>C GRCh37
NC_000017.9:g.59376079T>C NCBI36
NG_011699.1:g.32932A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3774+20A>G MANE Select ENSP00000396320.1:n.3774+20A>G
ENST00000578147.5:c.3774+20A>G ENSP00000463963.1:n.3774+20A>G
NM_000334.4:c.3774+20A>G MANE Select NP_000325.4:n.3774+20A>G
XM_005257566.3:c.3774+20A>G XP_005257623.1:n.3774+20A>G
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