Canonical Allele Identifier: CA2639316294
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63947223-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947226del , CM000679.2:g.63947226del GRCh38
NC_000017.10:g.62024586del , CM000679.1:g.62024586del GRCh37
NC_000017.9:g.59378318del NCBI36
NG_011699.1:g.30695del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3319-57del MANE Select ENSP00000396320.1:n.3319-57del
ENST00000578147.5:c.3319-57del ENSP00000463963.1:n.3319-57del
NM_000334.4:c.3319-57del MANE Select NP_000325.4:n.3319-57del
XM_005257566.3:c.3319-57del XP_005257623.1:n.3319-57del
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