Canonical Allele Identifier: CA170759
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 156108
ClinVar RCV Id: RCV000144156
dbSNP Id: rs587777723

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51789396A>C , CM000674.2:g.51789396A>C GRCh38
NC_000012.11:g.52183180A>C , CM000674.1:g.52183180A>C GRCh37
NC_000012.10:g.50469447A>C NCBI36
NG_021180.2:g.203161A>C
NG_021180.3:g.204439A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000354534.10:c.4397A>C ENSP00000346534.4:p.Asn1466Thr
ENST00000355133.7:n.4274A>C ENSP00000347255.4:p.Asn1425Thr
ENST00000545061.5:c.4274A>C ENSP00000440360.1:p.Asn1425Thr
ENST00000599343.5:n.4430A>C ENSP00000476447.3:p.Asn1477Thr
ENST00000627620.2:n.4397A>C ENSP00000487583.1:p.Asn1466Thr
NM_001177984.2:c.4274A>C NP_001171455.1:p.Asn1425Thr
NM_014191.3:c.4397A>C NP_055006.1:p.Asn1466Thr
XM_006719556.2:c.4397A>C XP_006719619.1:p.Asn1466Thr
XM_011538650.1:c.4397A>C XP_011536952.1:p.Asn1466Thr
XM_011538651.1:c.4397A>C XP_011536953.1:p.Asn1466Thr
NM_001330260.1:c.4397A>C NP_001317189.1:p.Asn1466Thr
XM_006719556.4:c.4397A>C XP_006719619.1:p.Asn1466Thr
XM_011538651.3:c.4397A>C XP_011536953.1:p.Asn1466Thr
XM_017019794.2:c.4397A>C XP_016875283.1:p.Asn1466Thr
XM_017019795.2:c.4274A>C XP_016875284.1:p.Asn1425Thr
NM_001330260.2:c.4397A>C MANE Select NP_001317189.1:p.Asn1466Thr
NM_001369788.1:c.4274A>C NP_001356717.1:p.Asn1425Thr
NM_014191.4:c.4397A>C MANE Plus Clinical NP_055006.1:p.Asn1466Thr
NM_001177984.3:c.4274A>C NP_001171455.1:p.Asn1425Thr