Canonical Allele Identifier: CA10586295

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 253288
• ClinVar RCV Id: RCV000239751 ; RCV000493549 ; RCV002519872 ; RCV003335289 ; RCV003992247
• dbSNP Id: rs879255704
• MyVariant Identifiers: chr12:g.52180362A>G (hg19) ; chr12:g.51786578A>G (hg38)
• PubMed: PMID:24352161 ; PMID:25799905 ; PMID:27559564

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51786578A>G , CM000674.2:g.51786578A>G	GRCh38
NC_000012.11:g.52180362A>G , CM000674.1:g.52180362A>G	GRCh37
NC_000012.10:g.50466629A>G	NCBI36
NG_021180.2:g.200343A>G
NG_021180.3:g.201621A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.3979A>G MANE Plus Clinical	ENSP00000346534.4:p.Ile1327Val
ENST00000548086.3:c.1773A>G
ENST00000627620.5:c.3979A>G MANE Select	ENSP00000487583.2:p.Ile1327Val
ENST00000636945.2:c.2043A>G
ENST00000662684.1:c.3979A>G	ENSP00000499636.1:p.Ile1327Val
ENST00000668547.1:c.3856A>G	ENSP00000499691.1:p.Ile1286Val
ENST00000354534.10:c.3979A>G	ENSP00000346534.4:p.Ile1327Val
ENST00000355133.7:c.3856A>G	ENSP00000347255.4:p.Ile1286Val
ENST00000545061.5:c.3856A>G	ENSP00000440360.1:p.Ile1286Val
ENST00000548086.1:n.230A>G
ENST00000599343.5:c.4012A>G	ENSP00000476447.3:p.Ile1338Val
ENST00000627620.2:c.3979A>G	ENSP00000487583.1:p.Ile1327Val
NM_001177984.2:c.3856A>G	NP_001171455.1:p.Ile1286Val
NM_014191.3:c.3979A>G	NP_055006.1:p.Ile1327Val
XM_006719556.2:c.3979A>G	XP_006719619.1:p.Ile1327Val
XM_011538650.1:c.3979A>G	XP_011536952.1:p.Ile1327Val
XM_011538651.1:c.3979A>G	XP_011536953.1:p.Ile1327Val
NM_001330260.1:c.3979A>G	NP_001317189.1:p.Ile1327Val
XM_006719556.4:c.3979A>G	XP_006719619.1:p.Ile1327Val
XM_011538651.3:c.3979A>G	XP_011536953.1:p.Ile1327Val
XM_017019794.2:c.3979A>G	XP_016875283.1:p.Ile1327Val
XM_017019795.2:c.3856A>G	XP_016875284.1:p.Ile1286Val
XM_017019796.1:c.*77A>G	XP_016875285.1:n.*77A>G
NM_001330260.2:c.3979A>G MANE Select	NP_001317189.1:p.Ile1327Val
NM_001369788.1:c.3856A>G	NP_001356717.1:p.Ile1286Val
NM_014191.4:c.3979A>G MANE Plus Clinical	NP_055006.1:p.Ile1327Val
NM_001177984.3:c.3856A>G	NP_001171455.1:p.Ile1286Val