Canonical Allele Identifier: CA385224589

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 1157021
• ClinVar RCV Id: RCV001499909
• dbSNP Id: rs2138716670
• MyVariant Identifiers: chr12:g.52082826G>C (hg19) ; chr12:g.51689042G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51689042G>C , CM000674.2:g.51689042G>C	GRCh38
NC_000012.11:g.52082826G>C , CM000674.1:g.52082826G>C	GRCh37
NC_000012.10:g.50369093G>C	NCBI36
NG_021180.2:g.102807G>C
NG_021180.3:g.104085G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703687.1:n.2666G>C
ENST00000354534.11:c.706+193G>C MANE Plus Clinical	ENSP00000346534.4:n.706+193G>C
ENST00000627620.5:c.652G>C MANE Select	ENSP00000487583.2:p.Ala218Pro
ENST00000637709.2:c.*167G>C	ENSP00000490470.1:n.*167G>C
ENST00000638820.1:c.652G>C	ENSP00000492157.1:p.Ala218Pro
ENST00000662684.1:c.652G>C	ENSP00000499636.1:p.Ala218Pro
ENST00000667214.1:c.706+193G>C	ENSP00000499724.1:n.706+193G>C
ENST00000668547.1:c.652G>C	ENSP00000499691.1:p.Ala218Pro
ENST00000354534.10:c.706+193G>C	ENSP00000346534.4:n.706+193G>C
ENST00000355133.7:c.706+193G>C	ENSP00000347255.4:n.706+193G>C
ENST00000545061.5:c.706+193G>C	ENSP00000440360.1:n.706+193G>C
ENST00000550891.4:n.780G>C
ENST00000551216.2:c.202G>C	ENSP00000447567.2:p.Ala68Pro
ENST00000599343.5:c.706+193G>C	ENSP00000476447.3:n.706+193G>C
ENST00000627620.2:c.652G>C	ENSP00000487583.1:p.Ala218Pro
NM_001177984.2:c.706+193G>C	NP_001171455.1:n.706+193G>C
NM_014191.3:c.706+193G>C	NP_055006.1:n.706+193G>C
XM_006719556.2:c.652G>C	XP_006719619.1:p.Ala218Pro
XM_011538650.1:c.652G>C	XP_011536952.1:p.Ala218Pro
XM_011538651.1:c.652G>C	XP_011536953.1:p.Ala218Pro
NM_001330260.1:c.652G>C	NP_001317189.1:p.Ala218Pro
XM_006719556.4:c.652G>C	XP_006719619.1:p.Ala218Pro
XM_011538651.3:c.652G>C	XP_011536953.1:p.Ala218Pro
XM_017019794.2:c.706+193G>C	XP_016875283.1:n.706+193G>C
XM_017019795.2:c.652G>C	XP_016875284.1:p.Ala218Pro
XM_017019796.1:c.652G>C	XP_016875285.1:p.Ala218Pro
NM_001330260.2:c.652G>C MANE Select	NP_001317189.1:p.Ala218Pro
NM_001369788.1:c.652G>C	NP_001356717.1:p.Ala218Pro
NM_014191.4:c.706+193G>C MANE Plus Clinical	NP_055006.1:n.706+193G>C
NM_001177984.3:c.706+193G>C	NP_001171455.1:n.706+193G>C