Canonical Allele Identifier: CA318290
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 207126
ClinVar RCV Id: RCV000189284
dbSNP Id: rs796053223
MyVariant Identifiers: chr12:g.52200206A>T (hg19) chr12:g.51806422A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51806422A>T , CM000674.2:g.51806422A>T GRCh38
NC_000012.11:g.52200206A>T , CM000674.1:g.52200206A>T GRCh37
NC_000012.10:g.50486473A>T NCBI36
NG_021180.2:g.220187A>T
NG_021180.3:g.221465A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000354534.11:c.4936A>T MANE Plus Clinical ENSP00000346534.4:p.Met1646Leu
ENST00000627620.5:c.4936A>T MANE Select ENSP00000487583.2:p.Met1646Leu
ENST00000636945.2:c.3000A>T
ENST00000662684.1:c.4936A>T ENSP00000499636.1:p.Met1646Leu
ENST00000668547.1:c.4813A>T ENSP00000499691.1:p.Met1605Leu
ENST00000354534.10:c.4936A>T ENSP00000346534.4:p.Met1646Leu
ENST00000355133.7:c.4813A>T ENSP00000347255.4:p.Met1605Leu
ENST00000545061.5:c.4813A>T ENSP00000440360.1:p.Met1605Leu
ENST00000599343.5:c.4969A>T ENSP00000476447.3:p.Met1657Leu
ENST00000627620.2:c.4936A>T ENSP00000487583.1:p.Met1646Leu
NM_001177984.2:c.4813A>T NP_001171455.1:p.Met1605Leu
NM_014191.3:c.4936A>T NP_055006.1:p.Met1646Leu
XM_006719556.2:c.4936A>T XP_006719619.1:p.Met1646Leu
XM_011538650.1:c.4936A>T XP_011536952.1:p.Met1646Leu
XM_011538651.1:c.4936A>T XP_011536953.1:p.Met1646Leu
NM_001330260.1:c.4936A>T NP_001317189.1:p.Met1646Leu
XM_006719556.4:c.4936A>T XP_006719619.1:p.Met1646Leu
XM_011538651.3:c.4936A>T XP_011536953.1:p.Met1646Leu
XM_017019794.2:c.4936A>T XP_016875283.1:p.Met1646Leu
XM_017019795.2:c.4813A>T XP_016875284.1:p.Met1605Leu
NM_001330260.2:c.4936A>T MANE Select NP_001317189.1:p.Met1646Leu
NM_001369788.1:c.4813A>T NP_001356717.1:p.Met1605Leu
NM_014191.4:c.4936A>T MANE Plus Clinical NP_055006.1:p.Met1646Leu
NM_001177984.3:c.4813A>T NP_001171455.1:p.Met1605Leu
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