Canonical Allele Identifier: CA318307
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 207135
dbSNP Id: rs796053230

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51807295A>C , CM000674.2:g.51807295A>C GRCh38
NC_000012.11:g.52201079A>C , CM000674.1:g.52201079A>C GRCh37
NC_000012.10:g.50487346A>C NCBI36
NG_021180.2:g.221060A>C
NG_021180.3:g.222338A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5809A>C MANE Plus Clinical ENSP00000346534.4:p.Ser1937Arg
ENST00000627620.5:c.5809A>C MANE Select ENSP00000487583.2:p.Ser1937Arg
ENST00000662684.1:c.5809A>C ENSP00000499636.1:p.Ser1937Arg
ENST00000668547.1:c.5686A>C ENSP00000499691.1:p.Ser1896Arg
ENST00000354534.10:c.5809A>C ENSP00000346534.4:p.Ser1937Arg
ENST00000355133.7:c.5686A>C ENSP00000347255.4:p.Ser1896Arg
ENST00000545061.5:c.5686A>C ENSP00000440360.1:p.Ser1896Arg
ENST00000599343.5:c.5842A>C ENSP00000476447.3:p.Ser1948Arg
ENST00000627620.2:c.5809A>C ENSP00000487583.1:p.Ser1937Arg
NM_001177984.2:c.5686A>C NP_001171455.1:p.Ser1896Arg
NM_014191.3:c.5809A>C NP_055006.1:p.Ser1937Arg
XM_006719556.2:c.5809A>C XP_006719619.1:p.Ser1937Arg
XM_011538650.1:c.5809A>C XP_011536952.1:p.Ser1937Arg
XM_011538651.1:c.5809A>C XP_011536953.1:p.Ser1937Arg
NM_001330260.1:c.5809A>C NP_001317189.1:p.Ser1937Arg
XM_006719556.4:c.5809A>C XP_006719619.1:p.Ser1937Arg
XM_011538651.3:c.5809A>C XP_011536953.1:p.Ser1937Arg
XM_017019794.2:c.5809A>C XP_016875283.1:p.Ser1937Arg
XM_017019795.2:c.5686A>C XP_016875284.1:p.Ser1896Arg
NM_001330260.2:c.5809A>C MANE Select NP_001317189.1:p.Ser1937Arg
NM_001369788.1:c.5686A>C NP_001356717.1:p.Ser1896Arg
NM_014191.4:c.5809A>C MANE Plus Clinical NP_055006.1:p.Ser1937Arg
NM_001177984.3:c.5686A>C NP_001171455.1:p.Ser1896Arg