Canonical Allele Identifier: CA117846
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 5909
dbSNP Id: rs121908551

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944708C>T , CM000679.2:g.63944708C>T GRCh38
NC_000017.10:g.62022068C>T , CM000679.1:g.62022068C>T GRCh37
NC_000017.9:g.59375800C>T NCBI36
NG_011699.1:g.33211G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.3877G>A MANE Select ENSP00000396320.1:p.Val1293Ile
ENST00000578147.5:c.3877G>A ENSP00000463963.1:p.Val1293Ile
NM_000334.4:c.3877G>A MANE Select NP_000325.4:p.Val1293Ile
XM_005257566.3:c.3877G>A XP_005257623.1:p.Val1293Ile