Canonical Allele Identifier: CA253655
Gene: SCN4A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5917
dbSNP Id: rs121908555

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945608G>A , CM000679.2:g.63945608G>A GRCh38
NC_000017.10:g.62022968G>A , CM000679.1:g.62022968G>A GRCh37
NC_000017.9:g.59376700G>A NCBI36
NG_011699.1:g.32311C>T

Transcript Alleles

HGVS Amino-acid change
NM_000334.4:c.3472C>T VV NP_000325.4:p.Pro1158Ser
XM_005257566.3:c.3472C>T XP_005257623.1:p.Pro1158Ser
ENST00000435607.3:c.3472C>T ENSP00000396320.1:p.Pro1158Ser
ENST00000578147.5:c.3472C>T ENSP00000463963.1:p.Pro1158Ser