Canonical Allele Identifier: CA658658154

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 448893
• ClinVar RCV Id: RCV000516224 ; RCV001089757
• dbSNP Id: rs1555228380
• MyVariant Identifiers: chr12:g.52180528_52180529insGA (hg19) ; chr12:g.51786744_51786745insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51786745_51786746dup , CM000674.2:g.51786745_51786746dup	GRCh38
NC_000012.11:g.52180529_52180530dup , CM000674.1:g.52180529_52180530dup	GRCh37
NC_000012.10:g.50466796_50466797dup	NCBI36
NG_021180.2:g.200510_200511dup
NG_021180.3:g.201788_201789dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.4146_4147dup MANE Plus Clinical	ENSP00000346534.4:p.Asn1383ArgfsTer11
ENST00000548086.3:c.1940_1941dup
ENST00000627620.5:c.4146_4147dup MANE Select	ENSP00000487583.2:p.Asn1383ArgfsTer11
ENST00000636945.2:c.2210_2211dup
ENST00000662684.1:c.4146_4147dup	ENSP00000499636.1:p.Asn1383ArgfsTer11
ENST00000668547.1:c.4023_4024dup	ENSP00000499691.1:p.Asn1342ArgfsTer11
ENST00000354534.10:c.4146_4147dup	ENSP00000346534.4:p.Asn1383ArgfsTer11
ENST00000355133.7:c.4023_4024dup	ENSP00000347255.4:p.Asn1342ArgfsTer11
ENST00000545061.5:c.4023_4024dup	ENSP00000440360.1:p.Asn1342ArgfsTer11
ENST00000548086.1:n.397_398dup
ENST00000599343.5:c.4179_4180dup	ENSP00000476447.3:p.Asn1394ArgfsTer11
ENST00000627620.2:c.4146_4147dup	ENSP00000487583.1:p.Asn1383ArgfsTer11
NM_001177984.2:c.4023_4024dup	NP_001171455.1:p.Asn1342ArgfsTer11
NM_014191.3:c.4146_4147dup	NP_055006.1:p.Asn1383ArgfsTer11
XM_006719556.2:c.4146_4147dup	XP_006719619.1:p.Asn1383ArgfsTer11
XM_011538650.1:c.4146_4147dup	XP_011536952.1:p.Asn1383ArgfsTer11
XM_011538651.1:c.4146_4147dup	XP_011536953.1:p.Asn1383ArgfsTer11
NM_001330260.1:c.4146_4147dup	NP_001317189.1:p.Asn1383ArgfsTer11
XM_006719556.4:c.4146_4147dup	XP_006719619.1:p.Asn1383ArgfsTer11
XM_011538651.3:c.4146_4147dup	XP_011536953.1:p.Asn1383ArgfsTer11
XM_017019794.2:c.4146_4147dup	XP_016875283.1:p.Asn1383ArgfsTer11
XM_017019795.2:c.4023_4024dup	XP_016875284.1:p.Asn1342ArgfsTer11
XM_017019796.1:c.*244_*245dup	XP_016875285.1:n.*244_*245dup
NM_001330260.2:c.4146_4147dup MANE Select	NP_001317189.1:p.Asn1383ArgfsTer11
NM_001369788.1:c.4023_4024dup	NP_001356717.1:p.Asn1342ArgfsTer11
NM_014191.4:c.4146_4147dup MANE Plus Clinical	NP_055006.1:p.Asn1383ArgfsTer11
NM_001177984.3:c.4023_4024dup	NP_001171455.1:p.Asn1342ArgfsTer11