Canonical Allele Identifier: CA384887871

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 938530
• ClinVar RCV Id: RCV001207769 ; RCV002285455
• dbSNP Id: rs1938723469
• COSMIC: COSM940588 ; COSM940589
• MyVariant Identifiers: chr12:g.52200866C>T (hg19) ; chr12:g.51807082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51807082C>T , CM000674.2:g.51807082C>T	GRCh38
NC_000012.11:g.52200866C>T , CM000674.1:g.52200866C>T	GRCh37
NC_000012.10:g.50487133C>T	NCBI36
NG_021180.2:g.220847C>T
NG_021180.3:g.222125C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.5596C>T MANE Plus Clinical	ENSP00000346534.4:p.Arg1866Trp
ENST00000627620.5:c.5596C>T MANE Select	ENSP00000487583.2:p.Arg1866Trp
ENST00000662684.1:c.5596C>T	ENSP00000499636.1:p.Arg1866Trp
ENST00000668547.1:c.5473C>T	ENSP00000499691.1:p.Arg1825Trp
ENST00000354534.10:c.5596C>T	ENSP00000346534.4:p.Arg1866Trp
ENST00000355133.7:c.5473C>T	ENSP00000347255.4:p.Arg1825Trp
ENST00000545061.5:c.5473C>T	ENSP00000440360.1:p.Arg1825Trp
ENST00000599343.5:c.5629C>T	ENSP00000476447.3:p.Arg1877Trp
ENST00000627620.2:c.5596C>T	ENSP00000487583.1:p.Arg1866Trp
NM_001177984.2:c.5473C>T	NP_001171455.1:p.Arg1825Trp
NM_014191.3:c.5596C>T	NP_055006.1:p.Arg1866Trp
XM_006719556.2:c.5596C>T	XP_006719619.1:p.Arg1866Trp
XM_011538650.1:c.5596C>T	XP_011536952.1:p.Arg1866Trp
XM_011538651.1:c.5596C>T	XP_011536953.1:p.Arg1866Trp
NM_001330260.1:c.5596C>T	NP_001317189.1:p.Arg1866Trp
XM_006719556.4:c.5596C>T	XP_006719619.1:p.Arg1866Trp
XM_011538651.3:c.5596C>T	XP_011536953.1:p.Arg1866Trp
XM_017019794.2:c.5596C>T	XP_016875283.1:p.Arg1866Trp
XM_017019795.2:c.5473C>T	XP_016875284.1:p.Arg1825Trp
NM_001330260.2:c.5596C>T MANE Select	NP_001317189.1:p.Arg1866Trp
NM_001369788.1:c.5473C>T	NP_001356717.1:p.Arg1825Trp
NM_014191.4:c.5596C>T MANE Plus Clinical	NP_055006.1:p.Arg1866Trp
NM_001177984.3:c.5473C>T	NP_001171455.1:p.Arg1825Trp