Canonical Allele Identifier: CA2270160796
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941136C= , CM000679.2:g.63941136C= GRCh38
NC_000017.10:g.62018496C= , CM000679.1:g.62018496C= GRCh37
NC_000017.9:g.59372228C= NCBI36
NG_011699.1:g.36783G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5146G= MANE Select ENSP00000396320.1:p.Glu1716=
ENST00000578147.5:c.5146G= ENSP00000463963.1:p.Glu1716=
NM_000334.4:c.5146G= MANE Select NP_000325.4:p.Glu1716=
XM_005257566.3:c.5146G= XP_005257623.1:p.Glu1716=
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