Canonical Allele Identifier: CA400613377
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2112220
ClinVar RCV Id: RCV003024215

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941061G>T , CM000679.2:g.63941061G>T GRCh38
NC_000017.10:g.62018421G>T , CM000679.1:g.62018421G>T GRCh37
NC_000017.9:g.59372153G>T NCBI36
NG_011699.1:g.36858C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5221C>A MANE Select ENSP00000396320.1:p.His1741Asn
ENST00000578147.5:c.5221C>A ENSP00000463963.1:p.His1741Asn
NM_000334.4:c.5221C>A MANE Select NP_000325.4:p.His1741Asn
XM_005257566.3:c.5221C>A XP_005257623.1:p.His1741Asn