Canonical Allele Identifier: CA501348035
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 748763
ClinVar RCV Id: RCV000925582
dbSNP Id: rs1598404776
MyVariant Identifiers: chr17:g.62018419G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941059G>A , CM000679.2:g.63941059G>A GRCh38
NC_000017.10:g.62018419G>A , CM000679.1:g.62018419G>A GRCh37
NC_000017.9:g.59372151G>A NCBI36
NG_011699.1:g.36860C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5223C>T MANE Select ENSP00000396320.1:p.His1741=
ENST00000578147.5:c.5223C>T ENSP00000463963.1:p.His1741=
NM_000334.4:c.5223C>T MANE Select NP_000325.4:p.His1741=
XM_005257566.3:c.5223C>T XP_005257623.1:p.His1741=