Canonical Allele Identifier: CA384889250
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1476350
ClinVar RCV Id: RCV002008101
dbSNP Id: rs2138944691
MyVariant Identifiers: chr12:g.52201034T>A (hg19) chr12:g.51807250T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51807250T>A , CM000674.2:g.51807250T>A GRCh38
NC_000012.11:g.52201034T>A , CM000674.1:g.52201034T>A GRCh37
NC_000012.10:g.50487301T>A NCBI36
NG_021180.2:g.221015T>A
NG_021180.3:g.222293T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5764T>A MANE Plus Clinical ENSP00000346534.4:p.Ser1922Thr
ENST00000627620.5:c.5764T>A MANE Select ENSP00000487583.2:p.Ser1922Thr
ENST00000662684.1:c.5764T>A ENSP00000499636.1:p.Ser1922Thr
ENST00000668547.1:c.5641T>A ENSP00000499691.1:p.Ser1881Thr
ENST00000354534.10:c.5764T>A ENSP00000346534.4:p.Ser1922Thr
ENST00000355133.7:c.5641T>A ENSP00000347255.4:p.Ser1881Thr
ENST00000545061.5:c.5641T>A ENSP00000440360.1:p.Ser1881Thr
ENST00000599343.5:c.5797T>A ENSP00000476447.3:p.Ser1933Thr
ENST00000627620.2:c.5764T>A ENSP00000487583.1:p.Ser1922Thr
NM_001177984.2:c.5641T>A NP_001171455.1:p.Ser1881Thr
NM_014191.3:c.5764T>A NP_055006.1:p.Ser1922Thr
XM_006719556.2:c.5764T>A XP_006719619.1:p.Ser1922Thr
XM_011538650.1:c.5764T>A XP_011536952.1:p.Ser1922Thr
XM_011538651.1:c.5764T>A XP_011536953.1:p.Ser1922Thr
NM_001330260.1:c.5764T>A NP_001317189.1:p.Ser1922Thr
XM_006719556.4:c.5764T>A XP_006719619.1:p.Ser1922Thr
XM_011538651.3:c.5764T>A XP_011536953.1:p.Ser1922Thr
XM_017019794.2:c.5764T>A XP_016875283.1:p.Ser1922Thr
XM_017019795.2:c.5641T>A XP_016875284.1:p.Ser1881Thr
NM_001330260.2:c.5764T>A MANE Select NP_001317189.1:p.Ser1922Thr
NM_001369788.1:c.5641T>A NP_001356717.1:p.Ser1881Thr
NM_014191.4:c.5764T>A MANE Plus Clinical NP_055006.1:p.Ser1922Thr
NM_001177984.3:c.5641T>A NP_001171455.1:p.Ser1881Thr
Search 100 bp 5'
Search 100 bp 3'