Canonical Allele Identifier: CA10586287
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 253278
ClinVar RCV Id: RCV000239757
dbSNP Id: rs879255696

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51688790T>A , CM000674.2:g.51688790T>A GRCh38
NC_000012.11:g.52082574T>A , CM000674.1:g.52082574T>A GRCh37
NC_000012.10:g.50368841T>A NCBI36
NG_021180.2:g.102555T>A
NG_021180.3:g.103833T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703687.1:n.2414T>A
ENST00000354534.11:c.647T>A MANE Plus Clinical ENSP00000346534.4:p.Val216Asp
ENST00000627620.5:c.615-215T>A MANE Select ENSP00000487583.2:n.615-215T>A
ENST00000637709.2:c.647T>A ENSP00000490470.1:p.Val216Asp
ENST00000638820.1:c.615-215T>A ENSP00000492157.1:n.615-215T>A
ENST00000662684.1:c.615-215T>A ENSP00000499636.1:n.615-215T>A
ENST00000667214.1:c.647T>A ENSP00000499724.1:p.Val216Asp
ENST00000668547.1:c.615-215T>A ENSP00000499691.1:n.615-215T>A
ENST00000354534.10:c.647T>A ENSP00000346534.4:p.Val216Asp
ENST00000355133.7:c.647T>A ENSP00000347255.4:p.Val216Asp
ENST00000545061.5:c.647T>A ENSP00000440360.1:p.Val216Asp
ENST00000550891.4:n.743-215T>A
ENST00000551216.2:c.165-215T>A ENSP00000447567.2:n.165-215T>A
ENST00000599343.5:c.647T>A ENSP00000476447.3:p.Val216Asp
ENST00000627620.2:c.615-215T>A ENSP00000487583.1:n.615-215T>A
NM_001177984.2:c.647T>A NP_001171455.1:p.Val216Asp
NM_014191.3:c.647T>A NP_055006.1:p.Val216Asp
XM_006719556.2:c.615-215T>A XP_006719619.1:n.615-215T>A
XM_011538650.1:c.615-215T>A XP_011536952.1:n.615-215T>A
XM_011538651.1:c.615-215T>A XP_011536953.1:n.615-215T>A
NM_001330260.1:c.615-215T>A NP_001317189.1:n.615-215T>A
XM_006719556.4:c.615-215T>A XP_006719619.1:n.615-215T>A
XM_011538651.3:c.615-215T>A XP_011536953.1:n.615-215T>A
XM_017019794.2:c.647T>A XP_016875283.1:p.Val216Asp
XM_017019795.2:c.615-215T>A XP_016875284.1:n.615-215T>A
XM_017019796.1:c.615-215T>A XP_016875285.1:n.615-215T>A
NM_001330260.2:c.615-215T>A MANE Select NP_001317189.1:n.615-215T>A
NM_001369788.1:c.615-215T>A NP_001356717.1:n.615-215T>A
NM_014191.4:c.647T>A MANE Plus Clinical NP_055006.1:p.Val216Asp
NM_001177984.3:c.647T>A NP_001171455.1:p.Val216Asp