Canonical Allele Identifier: CA350903
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 221262
ClinVar RCV Id: RCV000206912
dbSNP Id: rs121908544

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.4342C>A MANE Select ENSP00000396320.1:p.Arg1448Ser
ENST00000578147.5:c.4342C>A ENSP00000463963.1:p.Arg1448Ser
NM_000334.4:c.4342C>A MANE Select NP_000325.4:p.Arg1448Ser
XM_005257566.3:c.4342C>A XP_005257623.1:p.Arg1448Ser