Canonical Allele Identifier: CA16620553
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 420020
dbSNP Id: rs1064794243

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941169A>T , CM000679.2:g.63941169A>T GRCh38
NC_000017.10:g.62018529A>T , CM000679.1:g.62018529A>T GRCh37
NC_000017.9:g.59372261A>T NCBI36
NG_011699.1:g.36750T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.5113T>A MANE Select ENSP00000396320.1:p.Phe1705Ile
ENST00000578147.5:c.5113T>A ENSP00000463963.1:p.Phe1705Ile
NM_000334.4:c.5113T>A MANE Select NP_000325.4:p.Phe1705Ile
XM_005257566.3:c.5113T>A XP_005257623.1:p.Phe1705Ile