Canonical Allele Identifier: CA236327337

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 1318937
• ClinVar RCV Id: RCV001755585
• dbSNP Id: rs867420193
• MyVariant Identifiers: chr12:g.52200137C>T (hg19) ; chr12:g.51806353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51806353C>T , CM000674.2:g.51806353C>T	GRCh38
NC_000012.11:g.52200137C>T , CM000674.1:g.52200137C>T	GRCh37
NC_000012.10:g.50486404C>T	NCBI36
NG_021180.2:g.220118C>T
NG_021180.3:g.221396C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.4867C>T MANE Plus Clinical	ENSP00000346534.4:p.Arg1623Cys
ENST00000627620.5:c.4867C>T MANE Select	ENSP00000487583.2:p.Arg1623Cys
ENST00000636945.2:c.2931C>T
ENST00000662684.1:c.4867C>T	ENSP00000499636.1:p.Arg1623Cys
ENST00000668547.1:c.4744C>T	ENSP00000499691.1:p.Arg1582Cys
ENST00000354534.10:c.4867C>T	ENSP00000346534.4:p.Arg1623Cys
ENST00000355133.7:c.4744C>T	ENSP00000347255.4:p.Arg1582Cys
ENST00000545061.5:c.4744C>T	ENSP00000440360.1:p.Arg1582Cys
ENST00000599343.5:c.4900C>T	ENSP00000476447.3:p.Arg1634Cys
ENST00000627620.2:c.4867C>T	ENSP00000487583.1:p.Arg1623Cys
NM_001177984.2:c.4744C>T	NP_001171455.1:p.Arg1582Cys
NM_014191.3:c.4867C>T	NP_055006.1:p.Arg1623Cys
XM_006719556.2:c.4867C>T	XP_006719619.1:p.Arg1623Cys
XM_011538650.1:c.4867C>T	XP_011536952.1:p.Arg1623Cys
XM_011538651.1:c.4867C>T	XP_011536953.1:p.Arg1623Cys
NM_001330260.1:c.4867C>T	NP_001317189.1:p.Arg1623Cys
XM_006719556.4:c.4867C>T	XP_006719619.1:p.Arg1623Cys
XM_011538651.3:c.4867C>T	XP_011536953.1:p.Arg1623Cys
XM_017019794.2:c.4867C>T	XP_016875283.1:p.Arg1623Cys
XM_017019795.2:c.4744C>T	XP_016875284.1:p.Arg1582Cys
NM_001330260.2:c.4867C>T MANE Select	NP_001317189.1:p.Arg1623Cys
NM_001369788.1:c.4744C>T	NP_001356717.1:p.Arg1582Cys
NM_014191.4:c.4867C>T MANE Plus Clinical	NP_055006.1:p.Arg1623Cys
NM_001177984.3:c.4744C>T	NP_001171455.1:p.Arg1582Cys