Canonical Allele Identifier: CA645580707
Gene: SCN4A HGNC NCBI

Linked Data

COSMIC: COSM5347664
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63940992_63940993del , CM000679.2:g.63940992_63940993del GRCh38
NC_000017.10:g.62018352_62018353del , CM000679.1:g.62018352_62018353del GRCh37
NC_000017.9:g.59372084_59372085del NCBI36
NG_011699.1:g.36926_36927del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5289_5290del MANE Select ENSP00000396320.1:p.Asp1763GlufsTer4
ENST00000578147.5:c.5289_5290del ENSP00000463963.1:p.Asp1763GlufsTer4
NM_000334.4:c.5289_5290del MANE Select NP_000325.4:p.Asp1763GlufsTer4
XM_005257566.3:c.5289_5290del XP_005257623.1:p.Asp1763GlufsTer4
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