Canonical Allele Identifier: CA2036159572

Gene: SCN8A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51689006T= , CM000674.2:g.51689006T=	GRCh38
NC_000012.11:g.52082790T= , CM000674.1:g.52082790T=	GRCh37
NC_000012.10:g.50369057T=	NCBI36
NG_021180.2:g.102771T=
NG_021180.3:g.104049T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703687.1:n.2630T=
ENST00000354534.11:c.706+157T= MANE Plus Clinical	ENSP00000346534.4:n.706+157T=
ENST00000627620.5:c.616T= MANE Select	ENSP00000487583.2:p.Tyr206=
ENST00000637709.2:c.*131T=	ENSP00000490470.1:n.*131T=
ENST00000638820.1:c.616T=	ENSP00000492157.1:p.Tyr206=
ENST00000662684.1:c.616T=	ENSP00000499636.1:p.Tyr206=
ENST00000667214.1:c.706+157T=	ENSP00000499724.1:n.706+157T=
ENST00000668547.1:c.616T=	ENSP00000499691.1:p.Tyr206=
ENST00000354534.10:c.706+157T=	ENSP00000346534.4:n.706+157T=
ENST00000355133.7:c.706+157T=	ENSP00000347255.4:n.706+157T=
ENST00000545061.5:c.706+157T=	ENSP00000440360.1:n.706+157T=
ENST00000550891.4:n.744T=
ENST00000551216.2:c.166T=	ENSP00000447567.2:p.Tyr56=
ENST00000599343.5:c.706+157T=	ENSP00000476447.3:n.706+157T=
ENST00000627620.2:c.616T=	ENSP00000487583.1:p.Tyr206=
NM_001177984.2:c.706+157T=	NP_001171455.1:n.706+157T=
NM_014191.3:c.706+157T=	NP_055006.1:n.706+157T=
XM_006719556.2:c.616T=	XP_006719619.1:p.Tyr206=
XM_011538650.1:c.616T=	XP_011536952.1:p.Tyr206=
XM_011538651.1:c.616T=	XP_011536953.1:p.Tyr206=
NM_001330260.1:c.616T=	NP_001317189.1:p.Tyr206=
XM_006719556.4:c.616T=	XP_006719619.1:p.Tyr206=
XM_011538651.3:c.616T=	XP_011536953.1:p.Tyr206=
XM_017019794.2:c.706+157T=	XP_016875283.1:n.706+157T=
XM_017019795.2:c.616T=	XP_016875284.1:p.Tyr206=
XM_017019796.1:c.616T=	XP_016875285.1:p.Tyr206=
NM_001330260.2:c.616T= MANE Select	NP_001317189.1:p.Tyr206=
NM_001369788.1:c.616T=	NP_001356717.1:p.Tyr206=
NM_014191.4:c.706+157T= MANE Plus Clinical	NP_055006.1:n.706+157T=
NM_001177984.3:c.706+157T=	NP_001171455.1:n.706+157T=