Canonical Allele Identifier: CA117838

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 5901
• ClinVar RCV Id: RCV000006261 ; RCV000489309
• dbSNP Id: rs121908546
• gnomAD v4: 17-63951866-G-A
• MyVariant Identifiers: chr17:g.62029226G>A (hg19) ; chr17:g.63951866G>A (hg38)
• PubMed: PMID:1338909 ; PMID:7980103

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63951866G>A , CM000679.2:g.63951866G>A	GRCh38
NC_000017.10:g.62029226G>A , CM000679.1:g.62029226G>A	GRCh37
NC_000017.9:g.59382958G>A	NCBI36
NG_011699.1:g.26053C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000435607.3:c.2411C>T MANE Select	ENSP00000396320.1:p.Ser804Phe
ENST00000578147.5:c.2411C>T	ENSP00000463963.1:p.Ser804Phe
NM_000334.4:c.2411C>T MANE Select	NP_000325.4:p.Ser804Phe
XM_005257566.3:c.2411C>T	XP_005257623.1:p.Ser804Phe