Canonical Allele Identifier: CA2576355555
Gene: SCN4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944792del , CM000679.2:g.63944792del GRCh38
NC_000017.10:g.62022152del , CM000679.1:g.62022152del GRCh37
NC_000017.9:g.59375884del NCBI36
NG_011699.1:g.33127del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3793del MANE Select ENSP00000396320.1:p.Tyr1265ThrfsTer3
ENST00000578147.5:c.3793del ENSP00000463963.1:p.Tyr1265ThrfsTer3
NM_000334.4:c.3793del MANE Select NP_000325.4:p.Tyr1265ThrfsTer3
XM_005257566.3:c.3793del XP_005257623.1:p.Tyr1265ThrfsTer3