Canonical Allele Identifier: CA117842

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 5905
• ClinVar RCV Id: RCV000006267 ; RCV000006268 ; RCV000518064 ; RCV000800365 ; RCV001849259
• dbSNP Id: rs121908548
• gnomAD v4: 17-63941517-C-T
• MyVariant Identifiers: chr17:g.62018877C>T (hg19) ; chr17:g.63941517C>T (hg38)
• PubMed: PMID:8242056 ; PMID:9771789 ; PMID:11744749 ; PMID:16624558 ; PMID:18166706

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941517C>T , CM000679.2:g.63941517C>T	GRCh38
NC_000017.10:g.62018877C>T , CM000679.1:g.62018877C>T	GRCh37
NC_000017.9:g.59372609C>T	NCBI36
NG_011699.1:g.36402G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4765G>A MANE Select	ENSP00000396320.1:p.Val1589Met
ENST00000578147.5:c.4765G>A	ENSP00000463963.1:p.Val1589Met
NM_000334.4:c.4765G>A MANE Select	NP_000325.4:p.Val1589Met
XM_005257566.3:c.4765G>A	XP_005257623.1:p.Val1589Met