Canonical Allele Identifier: CA400620771
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1503195
ClinVar RCV Id: RCV002045370
dbSNP Id: rs764409572

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947150C>A , CM000679.2:g.63947150C>A GRCh38
NC_000017.10:g.62024510C>A , CM000679.1:g.62024510C>A GRCh37
NC_000017.9:g.59378242C>A NCBI36
NG_011699.1:g.30769G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3336G>T MANE Select ENSP00000396320.1:p.Leu1112Phe
ENST00000578147.5:c.3336G>T ENSP00000463963.1:p.Leu1112Phe
NM_000334.4:c.3336G>T MANE Select NP_000325.4:p.Leu1112Phe
XM_005257566.3:c.3336G>T XP_005257623.1:p.Leu1112Phe