Canonical Allele Identifier: CA385223695

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 2767097
• ClinVar RCV Id: RCV003590451
• gnomAD v4: 12-51688773-T-G
• MyVariant Identifiers: chr12:g.52082557T>G (hg19) ; chr12:g.51688773T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51688773T>G , CM000674.2:g.51688773T>G	GRCh38
NC_000012.11:g.52082557T>G , CM000674.1:g.52082557T>G	GRCh37
NC_000012.10:g.50368824T>G	NCBI36
NG_021180.2:g.102538T>G
NG_021180.3:g.103816T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703687.1:n.2397T>G
ENST00000354534.11:c.630T>G MANE Plus Clinical	ENSP00000346534.4:p.Phe210Leu
ENST00000627620.5:c.615-232T>G MANE Select	ENSP00000487583.2:n.615-232T>G
ENST00000637709.2:c.630T>G	ENSP00000490470.1:p.Phe210Leu
ENST00000638820.1:c.615-232T>G	ENSP00000492157.1:n.615-232T>G
ENST00000662684.1:c.615-232T>G	ENSP00000499636.1:n.615-232T>G
ENST00000667214.1:c.630T>G	ENSP00000499724.1:p.Phe210Leu
ENST00000668547.1:c.615-232T>G	ENSP00000499691.1:n.615-232T>G
ENST00000354534.10:c.630T>G	ENSP00000346534.4:p.Phe210Leu
ENST00000355133.7:c.630T>G	ENSP00000347255.4:p.Phe210Leu
ENST00000545061.5:c.630T>G	ENSP00000440360.1:p.Phe210Leu
ENST00000550891.4:n.743-232T>G
ENST00000551216.2:c.165-232T>G	ENSP00000447567.2:n.165-232T>G
ENST00000599343.5:c.630T>G	ENSP00000476447.3:p.Phe210Leu
ENST00000627620.2:c.615-232T>G	ENSP00000487583.1:n.615-232T>G
NM_001177984.2:c.630T>G	NP_001171455.1:p.Phe210Leu
NM_014191.3:c.630T>G	NP_055006.1:p.Phe210Leu
XM_006719556.2:c.615-232T>G	XP_006719619.1:n.615-232T>G
XM_011538650.1:c.615-232T>G	XP_011536952.1:n.615-232T>G
XM_011538651.1:c.615-232T>G	XP_011536953.1:n.615-232T>G
NM_001330260.1:c.615-232T>G	NP_001317189.1:n.615-232T>G
XM_006719556.4:c.615-232T>G	XP_006719619.1:n.615-232T>G
XM_011538651.3:c.615-232T>G	XP_011536953.1:n.615-232T>G
XM_017019794.2:c.630T>G	XP_016875283.1:p.Phe210Leu
XM_017019795.2:c.615-232T>G	XP_016875284.1:n.615-232T>G
XM_017019796.1:c.615-232T>G	XP_016875285.1:n.615-232T>G
NM_001330260.2:c.615-232T>G MANE Select	NP_001317189.1:n.615-232T>G
NM_001369788.1:c.615-232T>G	NP_001356717.1:n.615-232T>G
NM_014191.4:c.630T>G MANE Plus Clinical	NP_055006.1:p.Phe210Leu
NM_001177984.3:c.630T>G	NP_001171455.1:p.Phe210Leu