Canonical Allele Identifier: CA8709118
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 374486
ClinVar RCV Id: RCV000415927 RCV003505109
dbSNP Id: rs752135284
ExAC: 17:62022041 TCTG / T
gnomAD v2: 17-62022041-TCTG-T
MyVariant Identifiers: chr17:g.62022042_62022044del (hg19) chr17:g.63944682_63944684del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944685_63944687del , CM000679.2:g.63944685_63944687del GRCh38
NC_000017.10:g.62022045_62022047del , CM000679.1:g.62022045_62022047del GRCh37
NC_000017.9:g.59375777_59375779del NCBI36
NG_011699.1:g.33235_33237del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3901_3903del MANE Select ENSP00000396320.1:p.Gln1301del
ENST00000578147.5:c.3901_3903del ENSP00000463963.1:p.Gln1301del
NM_000334.4:c.3901_3903del MANE Select NP_000325.4:p.Gln1301del
XM_005257566.3:c.3901_3903del XP_005257623.1:p.Gln1301del
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