Canonical Allele Identifier: CA891843491

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 589439
• ClinVar RCV Id: RCV002318849
• dbSNP Id: rs1565915356
• MyVariant Identifiers: chr12:g.52156376dup (hg19) ; chr12:g.51762592dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51762592dup , CM000674.2:g.51762592dup	GRCh38
NC_000012.11:g.52156376dup , CM000674.1:g.52156376dup	GRCh37
NC_000012.10:g.50442643dup	NCBI36
NG_021180.2:g.176357dup
NG_021180.3:g.177635dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354534.11:c.2460dup MANE Plus Clinical	ENSP00000346534.4:p.Asp821Ter
ENST00000548086.3:c.307dup
ENST00000627620.5:c.2460dup MANE Select	ENSP00000487583.2:p.Asp821Ter
ENST00000636945.2:c.464dup
ENST00000662684.1:c.2460dup	ENSP00000499636.1:p.Asp821Ter
ENST00000668547.1:c.2460dup	ENSP00000499691.1:p.Asp821Ter
ENST00000354534.10:c.2460dup	ENSP00000346534.4:p.Asp821Ter
ENST00000355133.7:c.2460dup	ENSP00000347255.4:p.Asp821Ter
ENST00000545061.5:c.2460dup	ENSP00000440360.1:p.Asp821Ter
ENST00000550891.4:n.2588dup
ENST00000599343.5:c.2493dup	ENSP00000476447.3:p.Asp832Ter
ENST00000627620.2:c.2460dup	ENSP00000487583.1:p.Asp821Ter
NM_001177984.2:c.2460dup	NP_001171455.1:p.Asp821Ter
NM_014191.3:c.2460dup	NP_055006.1:p.Asp821Ter
XM_006719556.2:c.2460dup	XP_006719619.1:p.Asp821Ter
XM_011538650.1:c.2460dup	XP_011536952.1:p.Asp821Ter
XM_011538651.1:c.2460dup	XP_011536953.1:p.Asp821Ter
NM_001330260.1:c.2460dup	NP_001317189.1:p.Asp821Ter
XM_006719556.4:c.2460dup	XP_006719619.1:p.Asp821Ter
XM_011538651.3:c.2460dup	XP_011536953.1:p.Asp821Ter
XM_017019794.2:c.2460dup	XP_016875283.1:p.Asp821Ter
XM_017019795.2:c.2460dup	XP_016875284.1:p.Asp821Ter
XM_017019796.1:c.2460dup	XP_016875285.1:p.Asp821Ter
NM_001330260.2:c.2460dup MANE Select	NP_001317189.1:p.Asp821Ter
NM_001369788.1:c.2460dup	NP_001356717.1:p.Asp821Ter
NM_014191.4:c.2460dup MANE Plus Clinical	NP_055006.1:p.Asp821Ter
NM_001177984.3:c.2460dup	NP_001171455.1:p.Asp821Ter