Canonical Allele Identifier: CA2499221741

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 1067137
• ClinVar RCV Id: RCV001378321
• dbSNP Id: rs2138944020

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51807065_51807085dup , CM000674.2:g.51807065_51807085dup	GRCh38
NC_000012.11:g.52200849_52200869dup , CM000674.1:g.52200849_52200869dup	GRCh37
NC_000012.10:g.50487116_50487136dup	NCBI36
NG_021180.2:g.220830_220850dup
NG_021180.3:g.222108_222128dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354534.11:c.5579_5599dup MANE Plus Clinical	ENSP00000346534.4:p.Arg1866_Gln1867insArg...
ENST00000627620.5:c.5579_5599dup MANE Select	ENSP00000487583.2:p.Arg1866_Gln1867insArg...
ENST00000662684.1:c.5579_5599dup	ENSP00000499636.1:p.Arg1866_Gln1867insArg...
ENST00000668547.1:c.5456_5476dup	ENSP00000499691.1:p.Arg1825_Gln1826insArg...
ENST00000354534.10:c.5579_5599dup	ENSP00000346534.4:p.Arg1866_Gln1867insArg...
ENST00000355133.7:c.5456_5476dup	ENSP00000347255.4:p.Arg1825_Gln1826insArg...
ENST00000545061.5:c.5456_5476dup	ENSP00000440360.1:p.Arg1825_Gln1826insArg...
ENST00000599343.5:c.5612_5632dup	ENSP00000476447.3:p.Arg1877_Gln1878insArg...
ENST00000627620.2:c.5579_5599dup	ENSP00000487583.1:p.Arg1866_Gln1867insArg...
NM_001177984.2:c.5456_5476dup	NP_001171455.1:p.Arg1825_Gln1826insArgGlu...
NM_014191.3:c.5579_5599dup	NP_055006.1:p.Arg1866_Gln1867insArgGluLeu...
XM_006719556.2:c.5579_5599dup	XP_006719619.1:p.Arg1866_Gln1867insArgGlu...
XM_011538650.1:c.5579_5599dup	XP_011536952.1:p.Arg1866_Gln1867insArgGlu...
XM_011538651.1:c.5579_5599dup	XP_011536953.1:p.Arg1866_Gln1867insArgGlu...
NM_001330260.1:c.5579_5599dup	NP_001317189.1:p.Arg1866_Gln1867insArgGlu...
XM_006719556.4:c.5579_5599dup	XP_006719619.1:p.Arg1866_Gln1867insArgGlu...
XM_011538651.3:c.5579_5599dup	XP_011536953.1:p.Arg1866_Gln1867insArgGlu...
XM_017019794.2:c.5579_5599dup	XP_016875283.1:p.Arg1866_Gln1867insArgGlu...
XM_017019795.2:c.5456_5476dup	XP_016875284.1:p.Arg1825_Gln1826insArgGlu...
NM_001330260.2:c.5579_5599dup MANE Select	NP_001317189.1:p.Arg1866_Gln1867insArgGlu...
NM_001369788.1:c.5456_5476dup	NP_001356717.1:p.Arg1825_Gln1826insArgGlu...
NM_014191.4:c.5579_5599dup MANE Plus Clinical	NP_055006.1:p.Arg1866_Gln1867insArgGluLeu...
NM_001177984.3:c.5456_5476dup	NP_001171455.1:p.Arg1825_Gln1826insArgGlu...