Canonical Allele Identifier: CA117855

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 5923
• ClinVar RCV Id: RCV000006286 ; RCV000020266 ; RCV000485864 ; RCV002267605
• dbSNP Id: rs80338956
• MyVariant Identifiers: chr17:g.62034820A>G (hg19) ; chr17:g.63957460A>G (hg38)
• PubMed: PMID:8902732 ; PMID:19015492 ; PMID:20301669

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63957460A>G , CM000679.2:g.63957460A>G	GRCh38
NC_000017.10:g.62034820A>G , CM000679.1:g.62034820A>G	GRCh37
NC_000017.9:g.59388552A>G	NCBI36
NG_011699.1:g.20459T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.2078T>C MANE Select	ENSP00000396320.1:p.Ile693Thr
ENST00000578147.5:c.2078T>C	ENSP00000463963.1:p.Ile693Thr
NM_000334.4:c.2078T>C MANE Select	NP_000325.4:p.Ile693Thr
XM_005257566.3:c.2078T>C	XP_005257623.1:p.Ile693Thr