Canonical Allele Identifier: CA163107

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 135651
• ClinVar RCV Id: RCV000122729 ; RCV000189267 ; RCV000624041 ; RCV001249685 ; RCV003992189 ; RCV003488395 ; RCV000803456 ; RCV003224864
• dbSNP Id: rs587780586
• gnomAD v4: 12-51765675-G-A
• MyVariant Identifiers: chr12:g.52159459G>A (hg19) ; chr12:g.51765675G>A (hg38)
• PubMed: PMID:7751906 ; PMID:9295353 ; PMID:9828131 ; PMID:10745221 ; PMID:12374766 ; PMID:16236810 ; PMID:17881658 ; PMID:20196795 ; PMID:22365152 ; PMID:23020937 ; PMID:23708187 ; PMID:23934111 ; PMID:24352161 ; PMID:24888894 ; PMID:25239001 ; PMID:25326637 ; PMID:25725044 ; PMID:25785782 ; PMID:25799905 ; PMID:25914188 ; PMID:26029160 ; PMID:26220391 ; PMID:26235739 ; PMID:26252990 ; PMID:26677014 ; PMID:26900580 ; PMID:26993267 ; PMID:27270488 ; PMID:27559564 ; PMID:28702509

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51765675G>A , CM000674.2:g.51765675G>A	GRCh38
NC_000012.11:g.52159459G>A , CM000674.1:g.52159459G>A	GRCh37
NC_000012.10:g.50445726G>A	NCBI36
NG_021180.2:g.179440G>A
NG_021180.3:g.180718G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.2549G>A MANE Plus Clinical	ENSP00000346534.4:p.Arg850Gln
ENST00000548086.3:c.396G>A
ENST00000627620.5:c.2549G>A MANE Select	ENSP00000487583.2:p.Arg850Gln
ENST00000636945.2:c.553G>A
ENST00000662684.1:c.2549G>A	ENSP00000499636.1:p.Arg850Gln
ENST00000668547.1:c.2549G>A	ENSP00000499691.1:p.Arg850Gln
ENST00000354534.10:c.2549G>A	ENSP00000346534.4:p.Arg850Gln
ENST00000355133.7:c.2549G>A	ENSP00000347255.4:p.Arg850Gln
ENST00000545061.5:c.2549G>A	ENSP00000440360.1:p.Arg850Gln
ENST00000550891.4:n.2677G>A
ENST00000599343.5:c.2582G>A	ENSP00000476447.3:p.Arg861Gln
ENST00000627620.2:c.2549G>A	ENSP00000487583.1:p.Arg850Gln
NM_001177984.2:c.2549G>A	NP_001171455.1:p.Arg850Gln
NM_014191.3:c.2549G>A	NP_055006.1:p.Arg850Gln
XM_006719556.2:c.2549G>A	XP_006719619.1:p.Arg850Gln
XM_011538650.1:c.2549G>A	XP_011536952.1:p.Arg850Gln
XM_011538651.1:c.2549G>A	XP_011536953.1:p.Arg850Gln
NM_001330260.1:c.2549G>A	NP_001317189.1:p.Arg850Gln
XM_006719556.4:c.2549G>A	XP_006719619.1:p.Arg850Gln
XM_011538651.3:c.2549G>A	XP_011536953.1:p.Arg850Gln
XM_017019794.2:c.2549G>A	XP_016875283.1:p.Arg850Gln
XM_017019795.2:c.2549G>A	XP_016875284.1:p.Arg850Gln
XM_017019796.1:c.2549G>A	XP_016875285.1:p.Arg850Gln
NM_001330260.2:c.2549G>A MANE Select	NP_001317189.1:p.Arg850Gln
NM_001369788.1:c.2549G>A	NP_001356717.1:p.Arg850Gln
NM_014191.4:c.2549G>A MANE Plus Clinical	NP_055006.1:p.Arg850Gln
NM_001177984.3:c.2549G>A	NP_001171455.1:p.Arg850Gln