Canonical Allele Identifier: CA2739272036

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 2839546
• ClinVar RCV Id: RCV003754552

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51789303_51789304del , CM000674.2:g.51789303_51789304del	GRCh38
NC_000012.11:g.52183087_52183088del , CM000674.1:g.52183087_52183088del	GRCh37
NC_000012.10:g.50469354_50469355del	NCBI36
NG_021180.2:g.203068_203069del
NG_021180.3:g.204346_204347del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354534.11:c.4304_4305del MANE Plus Clinical	ENSP00000346534.4:p.Glu1435GlyfsTer30
ENST00000627620.5:c.4304_4305del MANE Select	ENSP00000487583.2:p.Glu1435GlyfsTer30
ENST00000636945.2:c.2368_2369del
ENST00000662684.1:c.4304_4305del	ENSP00000499636.1:p.Glu1435GlyfsTer30
ENST00000668547.1:c.4181_4182del	ENSP00000499691.1:p.Glu1394GlyfsTer30
ENST00000354534.10:c.4304_4305del	ENSP00000346534.4:p.Glu1435GlyfsTer30
ENST00000355133.7:c.4181_4182del	ENSP00000347255.4:p.Glu1394GlyfsTer30
ENST00000545061.5:c.4181_4182del	ENSP00000440360.1:p.Glu1394GlyfsTer30
ENST00000599343.5:c.4337_4338del	ENSP00000476447.3:p.Glu1446GlyfsTer30
ENST00000627620.2:c.4304_4305del	ENSP00000487583.1:p.Glu1435GlyfsTer30
NM_001177984.2:c.4181_4182del	NP_001171455.1:p.Glu1394GlyfsTer30
NM_014191.3:c.4304_4305del	NP_055006.1:p.Glu1435GlyfsTer30
XM_006719556.2:c.4304_4305del	XP_006719619.1:p.Glu1435GlyfsTer30
XM_011538650.1:c.4304_4305del	XP_011536952.1:p.Glu1435GlyfsTer30
XM_011538651.1:c.4304_4305del	XP_011536953.1:p.Glu1435GlyfsTer30
NM_001330260.1:c.4304_4305del	NP_001317189.1:p.Glu1435GlyfsTer30
XM_006719556.4:c.4304_4305del	XP_006719619.1:p.Glu1435GlyfsTer30
XM_011538651.3:c.4304_4305del	XP_011536953.1:p.Glu1435GlyfsTer30
XM_017019794.2:c.4304_4305del	XP_016875283.1:p.Glu1435GlyfsTer30
XM_017019795.2:c.4181_4182del	XP_016875284.1:p.Glu1394GlyfsTer30
NM_001330260.2:c.4304_4305del MANE Select	NP_001317189.1:p.Glu1435GlyfsTer30
NM_001369788.1:c.4181_4182del	NP_001356717.1:p.Glu1394GlyfsTer30
NM_014191.4:c.4304_4305del MANE Plus Clinical	NP_055006.1:p.Glu1435GlyfsTer30
NM_001177984.3:c.4181_4182del	NP_001171455.1:p.Glu1394GlyfsTer30