Canonical Allele Identifier: CA16042906
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 373225
ClinVar RCV Id: RCV000413396
dbSNP Id: rs1057518294
COSMIC: COSM6137057 COSM6137058
MyVariant Identifiers: chr12:g.52201157G>A (hg19) chr12:g.51807373G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51807373G>A , CM000674.2:g.51807373G>A GRCh38
NC_000012.11:g.52201157G>A , CM000674.1:g.52201157G>A GRCh37
NC_000012.10:g.50487424G>A NCBI36
NG_021180.2:g.221138G>A
NG_021180.3:g.222416G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5887G>A MANE Plus Clinical ENSP00000346534.4:p.Glu1963Lys
ENST00000627620.5:c.5887G>A MANE Select ENSP00000487583.2:p.Glu1963Lys
ENST00000662684.1:c.5887G>A ENSP00000499636.1:p.Glu1963Lys
ENST00000668547.1:c.5764G>A ENSP00000499691.1:p.Glu1922Lys
ENST00000354534.10:c.5887G>A ENSP00000346534.4:p.Glu1963Lys
ENST00000355133.7:c.5764G>A ENSP00000347255.4:p.Glu1922Lys
ENST00000545061.5:c.5764G>A ENSP00000440360.1:p.Glu1922Lys
ENST00000599343.5:c.5920G>A ENSP00000476447.3:p.Glu1974Lys
ENST00000627620.2:c.5887G>A ENSP00000487583.1:p.Glu1963Lys
NM_001177984.2:c.5764G>A NP_001171455.1:p.Glu1922Lys
NM_014191.3:c.5887G>A NP_055006.1:p.Glu1963Lys
XM_006719556.2:c.5887G>A XP_006719619.1:p.Glu1963Lys
XM_011538650.1:c.5887G>A XP_011536952.1:p.Glu1963Lys
XM_011538651.1:c.5887G>A XP_011536953.1:p.Glu1963Lys
NM_001330260.1:c.5887G>A NP_001317189.1:p.Glu1963Lys
XM_006719556.4:c.5887G>A XP_006719619.1:p.Glu1963Lys
XM_011538651.3:c.5887G>A XP_011536953.1:p.Glu1963Lys
XM_017019794.2:c.5887G>A XP_016875283.1:p.Glu1963Lys
XM_017019795.2:c.5764G>A XP_016875284.1:p.Glu1922Lys
NM_001330260.2:c.5887G>A MANE Select NP_001317189.1:p.Glu1963Lys
NM_001369788.1:c.5764G>A NP_001356717.1:p.Glu1922Lys
NM_014191.4:c.5887G>A MANE Plus Clinical NP_055006.1:p.Glu1963Lys
NM_001177984.3:c.5764G>A NP_001171455.1:p.Glu1922Lys
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