Canonical Allele Identifier: CA117846

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 5909
• ClinVar RCV Id: RCV000006272 ; RCV000396578 ; RCV000509130 ; RCV000654659
• dbSNP Id: rs121908551
• gnomAD v2: 17-62022068-C-T
• gnomAD v3: 17-63944708-C-T
• gnomAD v4: 17-63944708-C-T
• COSMIC: COSM3388091
• MyVariant Identifiers: chr17:g.62022068C>T (hg19) ; chr17:g.63944708C>T (hg38)
• PubMed: PMID:8580427 ; PMID:9660885

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63944708C>T , CM000679.2:g.63944708C>T	GRCh38
NC_000017.10:g.62022068C>T , CM000679.1:g.62022068C>T	GRCh37
NC_000017.9:g.59375800C>T	NCBI36
NG_011699.1:g.33211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3877G>A MANE Select	ENSP00000396320.1:p.Val1293Ile
ENST00000578147.5:c.3877G>A	ENSP00000463963.1:p.Val1293Ile
NM_000334.4:c.3877G>A MANE Select	NP_000325.4:p.Val1293Ile
XM_005257566.3:c.3877G>A	XP_005257623.1:p.Val1293Ile