Canonical Allele Identifier: CA400616073
Gene: SCN4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941868G>C , CM000679.2:g.63941868G>C GRCh38
NC_000017.10:g.62019228G>C , CM000679.1:g.62019228G>C GRCh37
NC_000017.9:g.59372960G>C NCBI36
NG_011699.1:g.36051C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4414C>G MANE Select ENSP00000396320.1:p.Leu1472Val
ENST00000578147.5:c.4414C>G ENSP00000463963.1:p.Leu1472Val
NM_000334.4:c.4414C>G MANE Select NP_000325.4:p.Leu1472Val
XM_005257566.3:c.4414C>G XP_005257623.1:p.Leu1472Val