Canonical Allele Identifier: CA689783793
Gene: SCN8A HGNC NCBI

Linked Data

dbSNP Id: rs1247479581
gnomAD v3: 12-51807290-AAG-A
gnomAD v4: 12-51807290-AAG-A
MyVariant Identifiers: chr12:g.52201075_52201076del (hg19) chr12:g.51807291_51807292del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51807295_51807296del , CM000674.2:g.51807295_51807296del GRCh38
NC_000012.11:g.52201079_52201080del , CM000674.1:g.52201079_52201080del GRCh37
NC_000012.10:g.50487346_50487347del NCBI36
NG_021180.2:g.221060_221061del
NG_021180.3:g.222338_222339del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5809_5810del MANE Plus Clinical ENSP00000346534.4:p.Ser1937HisfsTer11
ENST00000627620.5:c.5809_5810del MANE Select ENSP00000487583.2:p.Ser1937HisfsTer11
ENST00000662684.1:c.5809_5810del ENSP00000499636.1:p.Ser1937HisfsTer11
ENST00000668547.1:c.5686_5687del ENSP00000499691.1:p.Ser1896HisfsTer11
ENST00000354534.10:c.5809_5810del ENSP00000346534.4:p.Ser1937HisfsTer11
ENST00000355133.7:c.5686_5687del ENSP00000347255.4:p.Ser1896HisfsTer11
ENST00000545061.5:c.5686_5687del ENSP00000440360.1:p.Ser1896HisfsTer11
ENST00000599343.5:c.5842_5843del ENSP00000476447.3:p.Ser1948HisfsTer11
ENST00000627620.2:c.5809_5810del ENSP00000487583.1:p.Ser1937HisfsTer11
NM_001177984.2:c.5686_5687del NP_001171455.1:p.Ser1896HisfsTer11
NM_014191.3:c.5809_5810del NP_055006.1:p.Ser1937HisfsTer11
XM_006719556.2:c.5809_5810del XP_006719619.1:p.Ser1937HisfsTer11
XM_011538650.1:c.5809_5810del XP_011536952.1:p.Ser1937HisfsTer11
XM_011538651.1:c.5809_5810del XP_011536953.1:p.Ser1937HisfsTer11
NM_001330260.1:c.5809_5810del NP_001317189.1:p.Ser1937HisfsTer11
XM_006719556.4:c.5809_5810del XP_006719619.1:p.Ser1937HisfsTer11
XM_011538651.3:c.5809_5810del XP_011536953.1:p.Ser1937HisfsTer11
XM_017019794.2:c.5809_5810del XP_016875283.1:p.Ser1937HisfsTer11
XM_017019795.2:c.5686_5687del XP_016875284.1:p.Ser1896HisfsTer11
NM_001330260.2:c.5809_5810del MANE Select NP_001317189.1:p.Ser1937HisfsTer11
NM_001369788.1:c.5686_5687del NP_001356717.1:p.Ser1896HisfsTer11
NM_014191.4:c.5809_5810del MANE Plus Clinical NP_055006.1:p.Ser1937HisfsTer11
NM_001177984.3:c.5686_5687del NP_001171455.1:p.Ser1896HisfsTer11
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