Canonical Allele Identifier: CA117841
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 5904
dbSNP Id: rs121908547

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63943825G>A , CM000679.2:g.63943825G>A GRCh38
NC_000017.10:g.62021185G>A , CM000679.1:g.62021185G>A GRCh37
NC_000017.9:g.59374917G>A NCBI36
NG_011699.1:g.34094C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.3938C>T MANE Select ENSP00000396320.1:p.Thr1313Met
ENST00000578147.5:c.3938C>T ENSP00000463963.1:p.Thr1313Met
NM_000334.4:c.3938C>T MANE Select NP_000325.4:p.Thr1313Met
XM_005257566.3:c.3938C>T XP_005257623.1:p.Thr1313Met