Canonical Allele Identifier: CA384890145
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1440273
ClinVar RCV Id: RCV001936839 RCV004527437
dbSNP Id: rs1555231189
gnomAD v4: 12-51807358-C-T
MyVariant Identifiers: chr12:g.52201142C>T (hg19) chr12:g.51807358C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51807358C>T , CM000674.2:g.51807358C>T GRCh38
NC_000012.11:g.52201142C>T , CM000674.1:g.52201142C>T GRCh37
NC_000012.10:g.50487409C>T NCBI36
NG_021180.2:g.221123C>T
NG_021180.3:g.222401C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5872C>T MANE Plus Clinical ENSP00000346534.4:p.Gln1958Ter
ENST00000627620.5:c.5872C>T MANE Select ENSP00000487583.2:p.Gln1958Ter
ENST00000662684.1:c.5872C>T ENSP00000499636.1:p.Gln1958Ter
ENST00000668547.1:c.5749C>T ENSP00000499691.1:p.Gln1917Ter
ENST00000354534.10:c.5872C>T ENSP00000346534.4:p.Gln1958Ter
ENST00000355133.7:c.5749C>T ENSP00000347255.4:p.Gln1917Ter
ENST00000545061.5:c.5749C>T ENSP00000440360.1:p.Gln1917Ter
ENST00000599343.5:c.5905C>T ENSP00000476447.3:p.Gln1969Ter
ENST00000627620.2:c.5872C>T ENSP00000487583.1:p.Gln1958Ter
NM_001177984.2:c.5749C>T NP_001171455.1:p.Gln1917Ter
NM_014191.3:c.5872C>T NP_055006.1:p.Gln1958Ter
XM_006719556.2:c.5872C>T XP_006719619.1:p.Gln1958Ter
XM_011538650.1:c.5872C>T XP_011536952.1:p.Gln1958Ter
XM_011538651.1:c.5872C>T XP_011536953.1:p.Gln1958Ter
NM_001330260.1:c.5872C>T NP_001317189.1:p.Gln1958Ter
XM_006719556.4:c.5872C>T XP_006719619.1:p.Gln1958Ter
XM_011538651.3:c.5872C>T XP_011536953.1:p.Gln1958Ter
XM_017019794.2:c.5872C>T XP_016875283.1:p.Gln1958Ter
XM_017019795.2:c.5749C>T XP_016875284.1:p.Gln1917Ter
NM_001330260.2:c.5872C>T MANE Select NP_001317189.1:p.Gln1958Ter
NM_001369788.1:c.5749C>T NP_001356717.1:p.Gln1917Ter
NM_014191.4:c.5872C>T MANE Plus Clinical NP_055006.1:p.Gln1958Ter
NM_001177984.3:c.5749C>T NP_001171455.1:p.Gln1917Ter
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