Canonical Allele Identifier: CA8709403
Gene: SCN4A HGNC NCBI
ClinVar RCV:
RCV000554442
RCV002483501
RCV003139863
RCV004024399
ClinVar Variation:
477412
COSMIC:
COSM4068686
dbSNP:
371779795
gnomAD v2:
17:62026057 G / C
gnomAD v3:
17:63948697 G / C
gnomAD v4:
chr17-63948697-G-C
Joint Max Group AF 0.00022315 (EAS)
Genomes Max Group AF 0.0000684 (EAS)
Exomes Max Group AF 0.00021266 (EAS)
MyVariant.info:
GRCh38 chr17:g.63948697G>C
GRCh37 chr17:g.62026057G>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63948697G>C , CM000679.2:g.63948697G>C GRCh38
NC_000017.10:g.62026057G>C , CM000679.1:g.62026057G>C GRCh37
NC_000017.9:g.59379789G>C NCBI36
NG_011699.1:g.29222C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3058C>G MANE Select ENSP00000396320.1:p.Leu1020Val
ENST00000578147.5:c.3058C>G ENSP00000463963.1:p.Leu1020Val
ENST00000584310.1:n.381C>G
NM_000334.4:c.3058C>G MANE Select NP_000325.4:p.Leu1020Val
XM_005257566.3:c.3058C>G XP_005257623.1:p.Leu1020Val
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