Canonical Allele Identifier: CA2573148738
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1463686
ClinVar RCV Id: RCV001975262
dbSNP Id: rs2138944836
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51807309del , CM000674.2:g.51807309del GRCh38
NC_000012.11:g.52201093del , CM000674.1:g.52201093del GRCh37
NC_000012.10:g.50487360del NCBI36
NG_021180.2:g.221074del
NG_021180.3:g.222352del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5823del MANE Plus Clinical ENSP00000346534.4:p.Ala1942ProfsTer9
ENST00000627620.5:c.5823del MANE Select ENSP00000487583.2:p.Ala1942ProfsTer9
ENST00000662684.1:c.5823del ENSP00000499636.1:p.Ala1942ProfsTer9
ENST00000668547.1:c.5700del ENSP00000499691.1:p.Ala1901ProfsTer9
ENST00000354534.10:c.5823del ENSP00000346534.4:p.Ala1942ProfsTer9
ENST00000355133.7:c.5700del ENSP00000347255.4:p.Ala1901ProfsTer9
ENST00000545061.5:c.5700del ENSP00000440360.1:p.Ala1901ProfsTer9
ENST00000599343.5:c.5856del ENSP00000476447.3:p.Ala1953ProfsTer9
ENST00000627620.2:c.5823del ENSP00000487583.1:p.Ala1942ProfsTer9
NM_001177984.2:c.5700del NP_001171455.1:p.Ala1901ProfsTer9
NM_014191.3:c.5823del NP_055006.1:p.Ala1942ProfsTer9
XM_006719556.2:c.5823del XP_006719619.1:p.Ala1942ProfsTer9
XM_011538650.1:c.5823del XP_011536952.1:p.Ala1942ProfsTer9
XM_011538651.1:c.5823del XP_011536953.1:p.Ala1942ProfsTer9
NM_001330260.1:c.5823del NP_001317189.1:p.Ala1942ProfsTer9
XM_006719556.4:c.5823del XP_006719619.1:p.Ala1942ProfsTer9
XM_011538651.3:c.5823del XP_011536953.1:p.Ala1942ProfsTer9
XM_017019794.2:c.5823del XP_016875283.1:p.Ala1942ProfsTer9
XM_017019795.2:c.5700del XP_016875284.1:p.Ala1901ProfsTer9
NM_001330260.2:c.5823del MANE Select NP_001317189.1:p.Ala1942ProfsTer9
NM_001369788.1:c.5700del NP_001356717.1:p.Ala1901ProfsTer9
NM_014191.4:c.5823del MANE Plus Clinical NP_055006.1:p.Ala1942ProfsTer9
NM_001177984.3:c.5700del NP_001171455.1:p.Ala1901ProfsTer9
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