Canonical Allele Identifier: CA117835

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 5898
• ClinVar RCV Id: RCV000006258 ; RCV000206951 ; RCV000255921 ; RCV001813736 ; RCV003989102
• dbSNP Id: rs121908544
• gnomAD v4: 17-63941940-G-A
• MyVariant Identifiers: chr17:g.62019300G>A (hg19) ; chr17:g.63941940G>A (hg38)
• PubMed: PMID:1316765 ; PMID:8005599 ; PMID:12483017 ; PMID:12552059 ; PMID:16801039 ; PMID:18033047 ; PMID:18166706 ; PMID:20301669

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941940G>A , CM000679.2:g.63941940G>A	GRCh38
NC_000017.10:g.62019300G>A , CM000679.1:g.62019300G>A	GRCh37
NC_000017.9:g.59373032G>A	NCBI36
NG_011699.1:g.35979C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4342C>T MANE Select	ENSP00000396320.1:p.Arg1448Cys
ENST00000578147.5:c.4342C>T	ENSP00000463963.1:p.Arg1448Cys
NM_000334.4:c.4342C>T MANE Select	NP_000325.4:p.Arg1448Cys
XM_005257566.3:c.4342C>T	XP_005257623.1:p.Arg1448Cys