Canonical Allele Identifier: CA2695226828
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945579del , CM000679.2:g.63945579del GRCh38
NC_000017.10:g.62022939del , CM000679.1:g.62022939del GRCh37
NC_000017.9:g.59376671del NCBI36
NG_011699.1:g.32341del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3502del MANE Select ENSP00000396320.1:p.Leu1168SerfsTer5
ENST00000578147.5:c.3502del ENSP00000463963.1:p.Leu1168SerfsTer5
NM_000334.4:c.3502del MANE Select NP_000325.4:p.Leu1168SerfsTer5
XM_005257566.3:c.3502del XP_005257623.1:p.Leu1168SerfsTer5
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