Canonical Allele Identifier: CA6571964
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1878994
dbSNP Id: rs369346315

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5879G>T MANE Plus Clinical ENSP00000346534.4:p.Arg1960Leu
ENST00000627620.5:c.5879G>T MANE Select ENSP00000487583.2:p.Arg1960Leu
ENST00000662684.1:c.5879G>T ENSP00000499636.1:p.Arg1960Leu
ENST00000668547.1:c.5756G>T ENSP00000499691.1:p.Arg1919Leu
ENST00000354534.10:c.5879G>T ENSP00000346534.4:p.Arg1960Leu
ENST00000355133.7:c.5756G>T ENSP00000347255.4:p.Arg1919Leu
ENST00000545061.5:c.5756G>T ENSP00000440360.1:p.Arg1919Leu
ENST00000599343.5:c.5912G>T ENSP00000476447.3:p.Arg1971Leu
ENST00000627620.2:c.5879G>T ENSP00000487583.1:p.Arg1960Leu
NM_001177984.2:c.5756G>T NP_001171455.1:p.Arg1919Leu
NM_014191.3:c.5879G>T NP_055006.1:p.Arg1960Leu
XM_006719556.2:c.5879G>T XP_006719619.1:p.Arg1960Leu
XM_011538650.1:c.5879G>T XP_011536952.1:p.Arg1960Leu
XM_011538651.1:c.5879G>T XP_011536953.1:p.Arg1960Leu
NM_001330260.1:c.5879G>T NP_001317189.1:p.Arg1960Leu
XM_006719556.4:c.5879G>T XP_006719619.1:p.Arg1960Leu
XM_011538651.3:c.5879G>T XP_011536953.1:p.Arg1960Leu
XM_017019794.2:c.5879G>T XP_016875283.1:p.Arg1960Leu
XM_017019795.2:c.5756G>T XP_016875284.1:p.Arg1919Leu
NM_001330260.2:c.5879G>T MANE Select NP_001317189.1:p.Arg1960Leu
NM_001369788.1:c.5756G>T NP_001356717.1:p.Arg1919Leu
NM_014191.4:c.5879G>T MANE Plus Clinical NP_055006.1:p.Arg1960Leu
NM_001177984.3:c.5756G>T NP_001171455.1:p.Arg1919Leu