Canonical Allele Identifier: CA2036202776

Gene: SCN8A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51786565C= , CM000674.2:g.51786565C=	GRCh38
NC_000012.11:g.52180349C= , CM000674.1:g.52180349C=	GRCh37
NC_000012.10:g.50466616C=	NCBI36
NG_021180.2:g.200330C=
NG_021180.3:g.201608C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.3966C= MANE Plus Clinical	ENSP00000346534.4:p.Gly1322=
ENST00000548086.3:c.1760C=
ENST00000627620.5:c.3966C= MANE Select	ENSP00000487583.2:p.Gly1322=
ENST00000636945.2:c.2030C=
ENST00000662684.1:c.3966C=	ENSP00000499636.1:p.Gly1322=
ENST00000668547.1:c.3843C=	ENSP00000499691.1:p.Gly1281=
ENST00000354534.10:c.3966C=	ENSP00000346534.4:p.Gly1322=
ENST00000355133.7:c.3843C=	ENSP00000347255.4:p.Gly1281=
ENST00000545061.5:c.3843C=	ENSP00000440360.1:p.Gly1281=
ENST00000548086.1:n.217C=
ENST00000599343.5:c.3999C=	ENSP00000476447.3:p.Gly1333=
ENST00000627620.2:c.3966C=	ENSP00000487583.1:p.Gly1322=
NM_001177984.2:c.3843C=	NP_001171455.1:p.Gly1281=
NM_014191.3:c.3966C=	NP_055006.1:p.Gly1322=
XM_006719556.2:c.3966C=	XP_006719619.1:p.Gly1322=
XM_011538650.1:c.3966C=	XP_011536952.1:p.Gly1322=
XM_011538651.1:c.3966C=	XP_011536953.1:p.Gly1322=
NM_001330260.1:c.3966C=	NP_001317189.1:p.Gly1322=
XM_006719556.4:c.3966C=	XP_006719619.1:p.Gly1322=
XM_011538651.3:c.3966C=	XP_011536953.1:p.Gly1322=
XM_017019794.2:c.3966C=	XP_016875283.1:p.Gly1322=
XM_017019795.2:c.3843C=	XP_016875284.1:p.Gly1281=
XM_017019796.1:c.*64C=	XP_016875285.1:n.*64C=
NM_001330260.2:c.3966C= MANE Select	NP_001317189.1:p.Gly1322=
NM_001369788.1:c.3843C=	NP_001356717.1:p.Gly1281=
NM_014191.4:c.3966C= MANE Plus Clinical	NP_055006.1:p.Gly1322=
NM_001177984.3:c.3843C=	NP_001171455.1:p.Gly1281=