Canonical Allele Identifier: CA8709220
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1911420
ClinVar RCV Id: RCV002596939
dbSNP Id: rs761135349

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945452C>T , CM000679.2:g.63945452C>T GRCh38
NC_000017.10:g.62022812C>T , CM000679.1:g.62022812C>T GRCh37
NC_000017.9:g.59376544C>T NCBI36
NG_011699.1:g.32467G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3628G>A MANE Select ENSP00000396320.1:p.Glu1210Lys
ENST00000578147.5:c.3628G>A ENSP00000463963.1:p.Glu1210Lys
NM_000334.4:c.3628G>A MANE Select NP_000325.4:p.Glu1210Lys
XM_005257566.3:c.3628G>A XP_005257623.1:p.Glu1210Lys