Canonical Allele Identifier: CA117833

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 5896
• ClinVar RCV Id: RCV000006254 ; RCV000006255 ; RCV000255373 ; RCV000763020 ; RCV003231090 ; RCV002291266 ; RCV004532296
• 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

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