Canonical Allele Identifier: CA2573148742

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 1490814
• ClinVar RCV Id: RCV001986063
• dbSNP Id: rs2138945210

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51807424_51807427dup , CM000674.2:g.51807424_51807427dup	GRCh38
NC_000012.11:g.52201208_52201211dup , CM000674.1:g.52201208_52201211dup	GRCh37
NC_000012.10:g.50487475_50487478dup	NCBI36
NG_021180.2:g.221189_221192dup
NG_021180.3:g.222467_222470dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.5938_5941dup MANE Plus Clinical	ENSP00000346534.4:p.Ter1981LeuextTer18
ENST00000627620.5:c.5938_5941dup MANE Select	ENSP00000487583.2:p.Ter1981LeuextTer18
ENST00000662684.1:c.5938_5941dup	ENSP00000499636.1:p.Ter1981LeuextTer18
ENST00000668547.1:c.5815_5818dup	ENSP00000499691.1:p.Ter1940LeuextTer18
ENST00000354534.10:c.5938_5941dup	ENSP00000346534.4:p.Ter1981LeuextTer18
ENST00000355133.7:c.5815_5818dup	ENSP00000347255.4:p.Ter1940LeuextTer?
ENST00000545061.5:c.5815_5818dup	ENSP00000440360.1:p.Ter1940LeuextTer18
ENST00000599343.5:c.5971_5974dup	ENSP00000476447.3:p.Ter1992LeuextTer?
ENST00000627620.2:c.5938_5941dup	ENSP00000487583.1:p.Ter1981LeuextTer?
NM_001177984.2:c.5815_5818dup	NP_001171455.1:p.Ter1940LeuextTer18
NM_014191.3:c.5938_5941dup	NP_055006.1:p.Ter1981LeuextTer18
XM_006719556.2:c.5938_5941dup	XP_006719619.1:p.Ter1981LeuextTer18
XM_011538650.1:c.5938_5941dup	XP_011536952.1:p.Ter1981LeuextTer18
XM_011538651.1:c.5938_5941dup	XP_011536953.1:p.Ter1981LeuextTer18
NM_001330260.1:c.5938_5941dup	NP_001317189.1:p.Ter1981LeuextTer18
XM_006719556.4:c.5938_5941dup	XP_006719619.1:p.Ter1981LeuextTer18
XM_011538651.3:c.5938_5941dup	XP_011536953.1:p.Ter1981LeuextTer18
XM_017019794.2:c.5938_5941dup	XP_016875283.1:p.Ter1981LeuextTer18
XM_017019795.2:c.5815_5818dup	XP_016875284.1:p.Ter1940LeuextTer18
NM_001330260.2:c.5938_5941dup MANE Select	NP_001317189.1:p.Ter1981LeuextTer18
NM_001369788.1:c.5815_5818dup	NP_001356717.1:p.Ter1940LeuextTer18
NM_014191.4:c.5938_5941dup MANE Plus Clinical	NP_055006.1:p.Ter1981LeuextTer18
NM_001177984.3:c.5815_5818dup	NP_001171455.1:p.Ter1940LeuextTer18