Canonical Allele Identifier: CA117843

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 5906
• ClinVar RCV Id: RCV000006269 ; RCV000497702 ; RCV003505082
• dbSNP Id: rs121908549
• MyVariant Identifiers: chr17:g.62022962T>C (hg19) ; chr17:g.63945602T>C (hg38)
• PubMed: PMID:3822145 ; PMID:8058156 ; PMID:9336185 ; PMID:15037716 ; PMID:18337730 ; PMID:22759684 ; PMID:23884711

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63945602T>C , CM000679.2:g.63945602T>C	GRCh38
NC_000017.10:g.62022962T>C , CM000679.1:g.62022962T>C	GRCh37
NC_000017.9:g.59376694T>C	NCBI36
NG_011699.1:g.32317A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3478A>G MANE Select	ENSP00000396320.1:p.Ile1160Val
ENST00000578147.5:c.3478A>G	ENSP00000463963.1:p.Ile1160Val
NM_000334.4:c.3478A>G MANE Select	NP_000325.4:p.Ile1160Val
XM_005257566.3:c.3478A>G	XP_005257623.1:p.Ile1160Val