Canonical Allele Identifier: CA2842085305
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961295dup , CM000679.2:g.63961295dup GRCh38
NC_000017.10:g.62038655dup , CM000679.1:g.62038655dup GRCh37
NC_000017.9:g.59392387dup NCBI36
NG_011699.1:g.16625dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.1744dup MANE Select ENSP00000396320.1:p.Leu582ProfsTer26
ENST00000578147.5:c.1744dup ENSP00000463963.1:p.Leu582ProfsTer26
ENST00000581514.1:n.400dup
NM_000334.4:c.1744dup MANE Select NP_000325.4:p.Leu582ProfsTer26
XM_005257566.3:c.1744dup XP_005257623.1:p.Leu582ProfsTer26
XR_934910.1:n.124+573dup
XR_001752969.1:n.1276+573dup
XR_934910.2:n.1276+573dup
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