Canonical Allele Identifier: CA384890218
Gene: SCN8A HGNC NCBI

Linked Data

dbSNP Id: rs369346315
gnomAD v3: 12-51807365-G-C
gnomAD v4: 12-51807365-G-C
COSMIC: COSM694256 COSM694257
MyVariant Identifiers: chr12:g.52201149G>C (hg19) chr12:g.51807365G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51807365G>C , CM000674.2:g.51807365G>C GRCh38
NC_000012.11:g.52201149G>C , CM000674.1:g.52201149G>C GRCh37
NC_000012.10:g.50487416G>C NCBI36
NG_021180.2:g.221130G>C
NG_021180.3:g.222408G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5879G>C MANE Plus Clinical ENSP00000346534.4:p.Arg1960Pro
ENST00000627620.5:c.5879G>C MANE Select ENSP00000487583.2:p.Arg1960Pro
ENST00000662684.1:c.5879G>C ENSP00000499636.1:p.Arg1960Pro
ENST00000668547.1:c.5756G>C ENSP00000499691.1:p.Arg1919Pro
ENST00000354534.10:c.5879G>C ENSP00000346534.4:p.Arg1960Pro
ENST00000355133.7:c.5756G>C ENSP00000347255.4:p.Arg1919Pro
ENST00000545061.5:c.5756G>C ENSP00000440360.1:p.Arg1919Pro
ENST00000599343.5:c.5912G>C ENSP00000476447.3:p.Arg1971Pro
ENST00000627620.2:c.5879G>C ENSP00000487583.1:p.Arg1960Pro
NM_001177984.2:c.5756G>C NP_001171455.1:p.Arg1919Pro
NM_014191.3:c.5879G>C NP_055006.1:p.Arg1960Pro
XM_006719556.2:c.5879G>C XP_006719619.1:p.Arg1960Pro
XM_011538650.1:c.5879G>C XP_011536952.1:p.Arg1960Pro
XM_011538651.1:c.5879G>C XP_011536953.1:p.Arg1960Pro
NM_001330260.1:c.5879G>C NP_001317189.1:p.Arg1960Pro
XM_006719556.4:c.5879G>C XP_006719619.1:p.Arg1960Pro
XM_011538651.3:c.5879G>C XP_011536953.1:p.Arg1960Pro
XM_017019794.2:c.5879G>C XP_016875283.1:p.Arg1960Pro
XM_017019795.2:c.5756G>C XP_016875284.1:p.Arg1919Pro
NM_001330260.2:c.5879G>C MANE Select NP_001317189.1:p.Arg1960Pro
NM_001369788.1:c.5756G>C NP_001356717.1:p.Arg1919Pro
NM_014191.4:c.5879G>C MANE Plus Clinical NP_055006.1:p.Arg1960Pro
NM_001177984.3:c.5756G>C NP_001171455.1:p.Arg1919Pro
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