Canonical Allele Identifier: CA10581564

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 236207
• ClinVar RCV Id: RCV000225160 ; RCV001232816
• dbSNP Id: rs878853250
• MyVariant Identifiers: chr12:g.52093447T>C (hg19) ; chr12:g.51699663T>C (hg38)
• PubMed: PMID:27900360

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51699663T>C , CM000674.2:g.51699663T>C	GRCh38
NC_000012.11:g.52093447T>C , CM000674.1:g.52093447T>C	GRCh37
NC_000012.10:g.50379714T>C	NCBI36
NG_021180.2:g.113428T>C
NG_021180.3:g.114706T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.800T>C MANE Plus Clinical	ENSP00000346534.4:p.Leu267Ser
ENST00000627620.5:c.800T>C MANE Select	ENSP00000487583.2:p.Leu267Ser
ENST00000637709.2:c.*1238T>C	ENSP00000490470.1:n.*1238T>C
ENST00000638820.1:c.800T>C	ENSP00000492157.1:p.Leu267Ser
ENST00000662684.1:c.800T>C	ENSP00000499636.1:p.Leu267Ser
ENST00000667214.1:c.800T>C	ENSP00000499724.1:p.Leu267Ser
ENST00000668547.1:c.800T>C	ENSP00000499691.1:p.Leu267Ser
ENST00000354534.10:c.800T>C	ENSP00000346534.4:p.Leu267Ser
ENST00000355133.7:c.800T>C	ENSP00000347255.4:p.Leu267Ser
ENST00000545061.5:c.800T>C	ENSP00000440360.1:p.Leu267Ser
ENST00000550891.4:n.928T>C
ENST00000551216.2:c.350T>C	ENSP00000447567.2:p.Leu117Ser
ENST00000599343.5:c.800T>C	ENSP00000476447.3:p.Leu267Ser
ENST00000627620.2:c.800T>C	ENSP00000487583.1:p.Leu267Ser
NM_001177984.2:c.800T>C	NP_001171455.1:p.Leu267Ser
NM_014191.3:c.800T>C	NP_055006.1:p.Leu267Ser
XM_006719556.2:c.800T>C	XP_006719619.1:p.Leu267Ser
XM_011538650.1:c.800T>C	XP_011536952.1:p.Leu267Ser
XM_011538651.1:c.800T>C	XP_011536953.1:p.Leu267Ser
NM_001330260.1:c.800T>C	NP_001317189.1:p.Leu267Ser
XM_006719556.4:c.800T>C	XP_006719619.1:p.Leu267Ser
XM_011538651.3:c.800T>C	XP_011536953.1:p.Leu267Ser
XM_017019794.2:c.800T>C	XP_016875283.1:p.Leu267Ser
XM_017019795.2:c.800T>C	XP_016875284.1:p.Leu267Ser
XM_017019796.1:c.800T>C	XP_016875285.1:p.Leu267Ser
NM_001330260.2:c.800T>C MANE Select	NP_001317189.1:p.Leu267Ser
NM_001369788.1:c.800T>C	NP_001356717.1:p.Leu267Ser
NM_014191.4:c.800T>C MANE Plus Clinical	NP_055006.1:p.Leu267Ser
NM_001177984.3:c.800T>C	NP_001171455.1:p.Leu267Ser