Canonical Allele Identifier: CA6571920
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 379840
ClinVar RCV Id: RCV000440782
dbSNP Id: rs60637

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51806958C>G , CM000674.2:g.51806958C>G GRCh38
NC_000012.11:g.52200742C>G , CM000674.1:g.52200742C>G GRCh37
NC_000012.10:g.50487009C>G NCBI36
NG_021180.2:g.220723C>G
NG_021180.3:g.222001C>G

Transcript Alleles

HGVS Amino-acid change
NM_001177984.2:c.5349C>G NP_001171455.1:p.Pro1783=
NM_014191.3:c.5472C>G NP_055006.1:p.Pro1824=
XM_006719556.2:c.5472C>G XP_006719619.1:p.Pro1824=
XM_011538650.1:c.5472C>G XP_011536952.1:p.Pro1824=
XM_011538651.1:c.5472C>G XP_011536953.1:p.Pro1824=
NM_001330260.1:c.5472C>G NP_001317189.1:p.Pro1824=
XM_006719556.4:c.5472C>G XP_006719619.1:p.Pro1824=
XM_011538651.3:c.5472C>G XP_011536953.1:p.Pro1824=
XM_017019794.2:c.5472C>G XP_016875283.1:p.Pro1824=
XM_017019795.2:c.5349C>G XP_016875284.1:p.Pro1783=
NM_001330260.2:c.5472C>G MANE Select NP_001317189.1:p.Pro1824=
NM_001369788.1:c.5349C>G NP_001356717.1:p.Pro1783=
NM_014191.4:c.5472C>G NP_055006.1:p.Pro1824=
NM_001177984.3:c.5349C>G NP_001171455.1:p.Pro1783=
ENST00000354534.10:c.5472C>G ENSP00000346534.4:p.Pro1824=
ENST00000355133.7:n.5349C>G ENSP00000347255.4:p.Pro1783=
ENST00000545061.5:c.5349C>G ENSP00000440360.1:p.Pro1783=
ENST00000599343.5:n.5505C>G ENSP00000476447.3:p.Pro1835=
ENST00000627620.2:n.5472C>G ENSP00000487583.1:p.Pro1824=