Canonical Allele Identifier: CA292966936
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2792755
ClinVar RCV Id: RCV003616100
dbSNP Id: rs763017199

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63959274G>T , CM000679.2:g.63959274G>T GRCh38
NC_000017.10:g.62036634G>T , CM000679.1:g.62036634G>T GRCh37
NC_000017.9:g.59390366G>T NCBI36
NG_011699.1:g.18645C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2010C>A MANE Select ENSP00000396320.1:p.Ser670=
ENST00000578147.5:c.2010C>A ENSP00000463963.1:p.Ser670=
NM_000334.4:c.2010C>A MANE Select NP_000325.4:p.Ser670=
XM_005257566.3:c.2010C>A XP_005257623.1:p.Ser670=