Canonical Allele Identifier: CA117833
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 5896
ClinVar RCV Id: RCV000006254 RCV000006255 RCV000255373 RCV000763020 RCV001729339 RCV002291266
dbSNP Id: rs80338957
gnomAD v3: 17-63957427-G-A
gnomAD v4: 17-63957427-G-A
COSMIC: COSM982797
MyVariant Identifiers: chr17:g.62034787G>A (hg19) chr17:g.63957427G>A (hg38)
PubMed: PMID:1659948 PMID:8985730 PMID:11309455 PMID:12933953 PMID:15534250 PMID:15642860 PMID:20301669
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63957427G>A , CM000679.2:g.63957427G>A GRCh38
NC_000017.10:g.62034787G>A , CM000679.1:g.62034787G>A GRCh37
NC_000017.9:g.59388519G>A NCBI36
NG_011699.1:g.20492C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2111C>T MANE Select ENSP00000396320.1:p.Thr704Met
ENST00000578147.5:c.2111C>T ENSP00000463963.1:p.Thr704Met
NM_000334.4:c.2111C>T MANE Select NP_000325.4:p.Thr704Met
XM_005257566.3:c.2111C>T XP_005257623.1:p.Thr704Met
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