Canonical Allele Identifier: CA204472
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 208500
ClinVar RCV Id: RCV000190513 RCV000850597 RCV001852528 RCV002444773 RCV003992223
dbSNP Id: rs797045013
MyVariant Identifiers: chr12:g.52145307C>T (hg19) chr12:g.51751523C>T (hg38)
PubMed: PMID:24194747 PMID:26838676
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51751523C>T , CM000674.2:g.51751523C>T GRCh38
NC_000012.11:g.52145307C>T , CM000674.1:g.52145307C>T GRCh37
NC_000012.10:g.50431574C>T NCBI36
NG_021180.2:g.165288C>T
NG_021180.3:g.166566C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.2300C>T MANE Plus Clinical ENSP00000346534.4:p.Thr767Ile
ENST00000548086.3:c.147C>T
ENST00000627620.5:c.2300C>T MANE Select ENSP00000487583.2:p.Thr767Ile
ENST00000636945.2:c.304C>T
ENST00000662684.1:c.2300C>T ENSP00000499636.1:p.Thr767Ile
ENST00000668547.1:c.2300C>T ENSP00000499691.1:p.Thr767Ile
ENST00000354534.10:c.2300C>T ENSP00000346534.4:p.Thr767Ile
ENST00000355133.7:c.2300C>T ENSP00000347255.4:p.Thr767Ile
ENST00000545061.5:c.2300C>T ENSP00000440360.1:p.Thr767Ile
ENST00000550891.4:n.2428C>T
ENST00000599343.5:c.2333C>T ENSP00000476447.3:p.Thr778Ile
ENST00000627620.2:c.2300C>T ENSP00000487583.1:p.Thr767Ile
NM_001177984.2:c.2300C>T NP_001171455.1:p.Thr767Ile
NM_014191.3:c.2300C>T NP_055006.1:p.Thr767Ile
XM_006719556.2:c.2300C>T XP_006719619.1:p.Thr767Ile
XM_011538650.1:c.2300C>T XP_011536952.1:p.Thr767Ile
XM_011538651.1:c.2300C>T XP_011536953.1:p.Thr767Ile
NM_001330260.1:c.2300C>T NP_001317189.1:p.Thr767Ile
XM_006719556.4:c.2300C>T XP_006719619.1:p.Thr767Ile
XM_011538651.3:c.2300C>T XP_011536953.1:p.Thr767Ile
XM_017019794.2:c.2300C>T XP_016875283.1:p.Thr767Ile
XM_017019795.2:c.2300C>T XP_016875284.1:p.Thr767Ile
XM_017019796.1:c.2300C>T XP_016875285.1:p.Thr767Ile
NM_001330260.2:c.2300C>T MANE Select NP_001317189.1:p.Thr767Ile
NM_001369788.1:c.2300C>T NP_001356717.1:p.Thr767Ile
NM_014191.4:c.2300C>T MANE Plus Clinical NP_055006.1:p.Thr767Ile
NM_001177984.3:c.2300C>T NP_001171455.1:p.Thr767Ile
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