Canonical Allele Identifier: CA2573148766

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 1393473
• ClinVar RCV Id: RCV001908604
• dbSNP Id: rs2138838820

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51751587_51751594del , CM000674.2:g.51751587_51751594del	GRCh38
NC_000012.11:g.52145371_52145378del , CM000674.1:g.52145371_52145378del	GRCh37
NC_000012.10:g.50431638_50431645del	NCBI36
NG_021180.2:g.165352_165359del
NG_021180.3:g.166630_166637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.2364_2370+1del
ENST00000548086.3:c.211_217+1del
ENST00000627620.5:c.2364_2370+1del
ENST00000636945.2:c.368_374+1del
ENST00000662684.1:c.2364_2370+1del
ENST00000668547.1:c.2364_2370+1del
ENST00000354534.10:c.2364_2370+1del
ENST00000355133.7:c.2364_2370+1del
ENST00000545061.5:c.2364_2370+1del
ENST00000550891.4:n.2492_2498+1del
ENST00000599343.5:c.2397_2403+1del
ENST00000627620.2:c.2364_2370+1del
NM_001177984.2:c.2364_2370+1del
NM_014191.3:c.2364_2370+1del
XM_006719556.2:c.2364_2370+1del
XM_011538650.1:c.2364_2370+1del
XM_011538651.1:c.2364_2370+1del
NM_001330260.1:c.2364_2370+1del
XM_006719556.4:c.2364_2370+1del
XM_011538651.3:c.2364_2370+1del
XM_017019794.2:c.2364_2370+1del
XM_017019795.2:c.2364_2370+1del
XM_017019796.1:c.2364_2370+1del
NM_001330260.2:c.2364_2370+1del
NM_001369788.1:c.2364_2370+1del
NM_014191.4:c.2364_2370+1del
NM_001177984.3:c.2364_2370+1del