Canonical Allele Identifier: CA10586297

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 253292
• ClinVar RCV Id: RCV000239729 ; RCV001091246
• dbSNP Id: rs879255707
• MyVariant Identifiers: chr12:g.52200132T>G (hg19) ; chr12:g.51806348T>G (hg38)
• PubMed: PMID:26235738 ; PMID:27559564

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51806348T>G , CM000674.2:g.51806348T>G	GRCh38
NC_000012.11:g.52200132T>G , CM000674.1:g.52200132T>G	GRCh37
NC_000012.10:g.50486399T>G	NCBI36
NG_021180.2:g.220113T>G
NG_021180.3:g.221391T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354534.11:c.4862T>G MANE Plus Clinical	ENSP00000346534.4:p.Leu1621Trp
ENST00000627620.5:c.4862T>G MANE Select	ENSP00000487583.2:p.Leu1621Trp
ENST00000636945.2:c.2926T>G
ENST00000662684.1:c.4862T>G	ENSP00000499636.1:p.Leu1621Trp
ENST00000668547.1:c.4739T>G	ENSP00000499691.1:p.Leu1580Trp
ENST00000354534.10:c.4862T>G	ENSP00000346534.4:p.Leu1621Trp
ENST00000355133.7:c.4739T>G	ENSP00000347255.4:p.Leu1580Trp
ENST00000545061.5:c.4739T>G	ENSP00000440360.1:p.Leu1580Trp
ENST00000599343.5:c.4895T>G	ENSP00000476447.3:p.Leu1632Trp
ENST00000627620.2:c.4862T>G	ENSP00000487583.1:p.Leu1621Trp
NM_001177984.2:c.4739T>G	NP_001171455.1:p.Leu1580Trp
NM_014191.3:c.4862T>G	NP_055006.1:p.Leu1621Trp
XM_006719556.2:c.4862T>G	XP_006719619.1:p.Leu1621Trp
XM_011538650.1:c.4862T>G	XP_011536952.1:p.Leu1621Trp
XM_011538651.1:c.4862T>G	XP_011536953.1:p.Leu1621Trp
NM_001330260.1:c.4862T>G	NP_001317189.1:p.Leu1621Trp
XM_006719556.4:c.4862T>G	XP_006719619.1:p.Leu1621Trp
XM_011538651.3:c.4862T>G	XP_011536953.1:p.Leu1621Trp
XM_017019794.2:c.4862T>G	XP_016875283.1:p.Leu1621Trp
XM_017019795.2:c.4739T>G	XP_016875284.1:p.Leu1580Trp
NM_001330260.2:c.4862T>G MANE Select	NP_001317189.1:p.Leu1621Trp
NM_001369788.1:c.4739T>G	NP_001356717.1:p.Leu1580Trp
NM_014191.4:c.4862T>G MANE Plus Clinical	NP_055006.1:p.Leu1621Trp
NM_001177984.3:c.4739T>G	NP_001171455.1:p.Leu1580Trp