Canonical Allele Identifier: CA400615839
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1000520
ClinVar RCV Id: RCV001296665
dbSNP Id: rs1555600752

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941760T>C , CM000679.2:g.63941760T>C GRCh38
NC_000017.10:g.62019120T>C , CM000679.1:g.62019120T>C GRCh37
NC_000017.9:g.59372852T>C NCBI36
NG_011699.1:g.36159A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4522A>G MANE Select ENSP00000396320.1:p.Lys1508Glu
ENST00000578147.5:c.4522A>G ENSP00000463963.1:p.Lys1508Glu
NM_000334.4:c.4522A>G MANE Select NP_000325.4:p.Lys1508Glu
XM_005257566.3:c.4522A>G XP_005257623.1:p.Lys1508Glu