Canonical Allele Identifier: CA384889977
Gene: SCN8A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52201128C>A (hg19) chr12:g.51807344C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51807344C>A , CM000674.2:g.51807344C>A GRCh38
NC_000012.11:g.52201128C>A , CM000674.1:g.52201128C>A GRCh37
NC_000012.10:g.50487395C>A NCBI36
NG_021180.2:g.221109C>A
NG_021180.3:g.222387C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5858C>A MANE Plus Clinical ENSP00000346534.4:p.Pro1953His
ENST00000627620.5:c.5858C>A MANE Select ENSP00000487583.2:p.Pro1953His
ENST00000662684.1:c.5858C>A ENSP00000499636.1:p.Pro1953His
ENST00000668547.1:c.5735C>A ENSP00000499691.1:p.Pro1912His
ENST00000354534.10:c.5858C>A ENSP00000346534.4:p.Pro1953His
ENST00000355133.7:c.5735C>A ENSP00000347255.4:p.Pro1912His
ENST00000545061.5:c.5735C>A ENSP00000440360.1:p.Pro1912His
ENST00000599343.5:c.5891C>A ENSP00000476447.3:p.Pro1964His
ENST00000627620.2:c.5858C>A ENSP00000487583.1:p.Pro1953His
NM_001177984.2:c.5735C>A NP_001171455.1:p.Pro1912His
NM_014191.3:c.5858C>A NP_055006.1:p.Pro1953His
XM_006719556.2:c.5858C>A XP_006719619.1:p.Pro1953His
XM_011538650.1:c.5858C>A XP_011536952.1:p.Pro1953His
XM_011538651.1:c.5858C>A XP_011536953.1:p.Pro1953His
NM_001330260.1:c.5858C>A NP_001317189.1:p.Pro1953His
XM_006719556.4:c.5858C>A XP_006719619.1:p.Pro1953His
XM_011538651.3:c.5858C>A XP_011536953.1:p.Pro1953His
XM_017019794.2:c.5858C>A XP_016875283.1:p.Pro1953His
XM_017019795.2:c.5735C>A XP_016875284.1:p.Pro1912His
NM_001330260.2:c.5858C>A MANE Select NP_001317189.1:p.Pro1953His
NM_001369788.1:c.5735C>A NP_001356717.1:p.Pro1912His
NM_014191.4:c.5858C>A MANE Plus Clinical NP_055006.1:p.Pro1953His
NM_001177984.3:c.5735C>A NP_001171455.1:p.Pro1912His
Search 100 bp 5'
Search 100 bp 3'