Canonical Allele Identifier: CA384885730
Gene: SCN8A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52200653T>G (hg19) chr12:g.51806869T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51806869T>G , CM000674.2:g.51806869T>G GRCh38
NC_000012.11:g.52200653T>G , CM000674.1:g.52200653T>G GRCh37
NC_000012.10:g.50486920T>G NCBI36
NG_021180.2:g.220634T>G
NG_021180.3:g.221912T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5383T>G MANE Plus Clinical ENSP00000346534.4:p.Phe1795Val
ENST00000627620.5:c.5383T>G MANE Select ENSP00000487583.2:p.Phe1795Val
ENST00000636945.2:c.3447T>G
ENST00000662684.1:c.5383T>G ENSP00000499636.1:p.Phe1795Val
ENST00000668547.1:c.5260T>G ENSP00000499691.1:p.Phe1754Val
ENST00000354534.10:c.5383T>G ENSP00000346534.4:p.Phe1795Val
ENST00000355133.7:c.5260T>G ENSP00000347255.4:p.Phe1754Val
ENST00000545061.5:c.5260T>G ENSP00000440360.1:p.Phe1754Val
ENST00000599343.5:c.5416T>G ENSP00000476447.3:p.Phe1806Val
ENST00000627620.2:c.5383T>G ENSP00000487583.1:p.Phe1795Val
NM_001177984.2:c.5260T>G NP_001171455.1:p.Phe1754Val
NM_014191.3:c.5383T>G NP_055006.1:p.Phe1795Val
XM_006719556.2:c.5383T>G XP_006719619.1:p.Phe1795Val
XM_011538650.1:c.5383T>G XP_011536952.1:p.Phe1795Val
XM_011538651.1:c.5383T>G XP_011536953.1:p.Phe1795Val
NM_001330260.1:c.5383T>G NP_001317189.1:p.Phe1795Val
XM_006719556.4:c.5383T>G XP_006719619.1:p.Phe1795Val
XM_011538651.3:c.5383T>G XP_011536953.1:p.Phe1795Val
XM_017019794.2:c.5383T>G XP_016875283.1:p.Phe1795Val
XM_017019795.2:c.5260T>G XP_016875284.1:p.Phe1754Val
NM_001330260.2:c.5383T>G MANE Select NP_001317189.1:p.Phe1795Val
NM_001369788.1:c.5260T>G NP_001356717.1:p.Phe1754Val
NM_014191.4:c.5383T>G MANE Plus Clinical NP_055006.1:p.Phe1795Val
NM_001177984.3:c.5260T>G NP_001171455.1:p.Phe1754Val
Search 100 bp 5'
Search 100 bp 3'