Canonical Allele Identifier: CA8708891
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 840491
dbSNP Id: rs369430918

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941418C>T , CM000679.2:g.63941418C>T GRCh38
NC_000017.10:g.62018778C>T , CM000679.1:g.62018778C>T GRCh37
NC_000017.9:g.59372510C>T NCBI36
NG_011699.1:g.36501G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4864G>A MANE Select ENSP00000396320.1:p.Glu1622Lys
ENST00000578147.5:c.4864G>A ENSP00000463963.1:p.Glu1622Lys
NM_000334.4:c.4864G>A MANE Select NP_000325.4:p.Glu1622Lys
XM_005257566.3:c.4864G>A XP_005257623.1:p.Glu1622Lys