Canonical Allele Identifier: CA385224764
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2798733
ClinVar RCV Id: RCV003753935
dbSNP Id: rs1323578421

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51689066C>T , CM000674.2:g.51689066C>T GRCh38
NC_000012.11:g.52082850C>T , CM000674.1:g.52082850C>T GRCh37
NC_000012.10:g.50369117C>T NCBI36
NG_021180.2:g.102831C>T
NG_021180.3:g.104109C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703687.1:n.2690C>T
ENST00000354534.11:c.706+217C>T MANE Plus Clinical ENSP00000346534.4:n.706+217C>T
ENST00000627620.5:c.676C>T MANE Select ENSP00000487583.2:p.Arg226Ter
ENST00000637709.2:c.*191C>T ENSP00000490470.1:n.*191C>T
ENST00000638820.1:c.676C>T ENSP00000492157.1:p.Arg226Ter
ENST00000662684.1:c.676C>T ENSP00000499636.1:p.Arg226Ter
ENST00000667214.1:c.706+217C>T ENSP00000499724.1:n.706+217C>T
ENST00000668547.1:c.676C>T ENSP00000499691.1:p.Arg226Ter
ENST00000354534.10:c.706+217C>T ENSP00000346534.4:n.706+217C>T
ENST00000355133.7:c.706+217C>T ENSP00000347255.4:n.706+217C>T
ENST00000545061.5:c.706+217C>T ENSP00000440360.1:n.706+217C>T
ENST00000550891.4:n.804C>T
ENST00000551216.2:c.226C>T ENSP00000447567.2:p.Arg76Ter
ENST00000599343.5:c.706+217C>T ENSP00000476447.3:n.706+217C>T
ENST00000627620.2:c.676C>T ENSP00000487583.1:p.Arg226Ter
NM_001177984.2:c.706+217C>T NP_001171455.1:n.706+217C>T
NM_014191.3:c.706+217C>T NP_055006.1:n.706+217C>T
XM_006719556.2:c.676C>T XP_006719619.1:p.Arg226Ter
XM_011538650.1:c.676C>T XP_011536952.1:p.Arg226Ter
XM_011538651.1:c.676C>T XP_011536953.1:p.Arg226Ter
NM_001330260.1:c.676C>T NP_001317189.1:p.Arg226Ter
XM_006719556.4:c.676C>T XP_006719619.1:p.Arg226Ter
XM_011538651.3:c.676C>T XP_011536953.1:p.Arg226Ter
XM_017019794.2:c.706+217C>T XP_016875283.1:n.706+217C>T
XM_017019795.2:c.676C>T XP_016875284.1:p.Arg226Ter
XM_017019796.1:c.676C>T XP_016875285.1:p.Arg226Ter
NM_001330260.2:c.676C>T MANE Select NP_001317189.1:p.Arg226Ter
NM_001369788.1:c.676C>T NP_001356717.1:p.Arg226Ter
NM_014191.4:c.706+217C>T MANE Plus Clinical NP_055006.1:n.706+217C>T
NM_001177984.3:c.706+217C>T NP_001171455.1:n.706+217C>T