Canonical Allele Identifier: CA6571550
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1371411
dbSNP Id: rs775833241

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51769099G>A , CM000674.2:g.51769099G>A GRCh38
NC_000012.11:g.52162883G>A , CM000674.1:g.52162883G>A GRCh37
NC_000012.10:g.50449150G>A NCBI36
NG_021180.2:g.182864G>A
NG_021180.3:g.184142G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.3136G>A MANE Plus Clinical ENSP00000346534.4:p.Ala1046Thr
ENST00000548086.3:c.983G>A
ENST00000627620.5:c.3136G>A MANE Select ENSP00000487583.2:p.Ala1046Thr
ENST00000636945.2:c.1200G>A
ENST00000662684.1:c.3136G>A ENSP00000499636.1:p.Ala1046Thr
ENST00000668547.1:c.3136G>A ENSP00000499691.1:p.Ala1046Thr
ENST00000354534.10:c.3136G>A ENSP00000346534.4:p.Ala1046Thr
ENST00000355133.7:c.3136G>A ENSP00000347255.4:p.Ala1046Thr
ENST00000545061.5:c.3136G>A ENSP00000440360.1:p.Ala1046Thr
ENST00000599343.5:c.3169G>A ENSP00000476447.3:p.Ala1057Thr
ENST00000627620.2:c.3136G>A ENSP00000487583.1:p.Ala1046Thr
ENST00000627665.1:n.128G>A
NM_001177984.2:c.3136G>A NP_001171455.1:p.Ala1046Thr
NM_014191.3:c.3136G>A NP_055006.1:p.Ala1046Thr
XM_006719556.2:c.3136G>A XP_006719619.1:p.Ala1046Thr
XM_011538650.1:c.3136G>A XP_011536952.1:p.Ala1046Thr
XM_011538651.1:c.3136G>A XP_011536953.1:p.Ala1046Thr
NM_001330260.1:c.3136G>A NP_001317189.1:p.Ala1046Thr
XM_006719556.4:c.3136G>A XP_006719619.1:p.Ala1046Thr
XM_011538651.3:c.3136G>A XP_011536953.1:p.Ala1046Thr
XM_017019794.2:c.3136G>A XP_016875283.1:p.Ala1046Thr
XM_017019795.2:c.3136G>A XP_016875284.1:p.Ala1046Thr
XM_017019796.1:c.3136G>A XP_016875285.1:p.Ala1046Thr
NM_001330260.2:c.3136G>A MANE Select NP_001317189.1:p.Ala1046Thr
NM_001369788.1:c.3136G>A NP_001356717.1:p.Ala1046Thr
NM_014191.4:c.3136G>A MANE Plus Clinical NP_055006.1:p.Ala1046Thr
NM_001177984.3:c.3136G>A NP_001171455.1:p.Ala1046Thr