Canonical Allele Identifier: CA117842
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 5905
dbSNP Id: rs121908548

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941517C>T , CM000679.2:g.63941517C>T GRCh38
NC_000017.10:g.62018877C>T , CM000679.1:g.62018877C>T GRCh37
NC_000017.9:g.59372609C>T NCBI36
NG_011699.1:g.36402G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4765G>A MANE Select ENSP00000396320.1:p.Val1589Met
ENST00000578147.5:c.4765G>A ENSP00000463963.1:p.Val1589Met
NM_000334.4:c.4765G>A MANE Select NP_000325.4:p.Val1589Met
XM_005257566.3:c.4765G>A XP_005257623.1:p.Val1589Met