Canonical Allele Identifier: CA947652706
Gene: SCN8A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51806958_51806959insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA , CM000674.2:g.51806958_51806959insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA GRCh38
NC_000012.11:g.52200742_52200743insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA , CM000674.1:g.52200742_52200743insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA GRCh37
NC_000012.10:g.50487009_50487010insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA NCBI36
NG_021180.2:g.220723_220724insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA
NG_021180.3:g.222001_222002insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA

Transcript Alleles

HGVS Amino-acid change
ENST00000354534.11:c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA MANE Plus Clinical ENSP00000346534.4:p.Pro1824_Asn1825insPhe...
ENST00000627620.5:c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA MANE Select ENSP00000487583.2:p.Pro1824_Asn1825insPhe...
ENST00000636945.2:c.3536_3537insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA
ENST00000662684.1:c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA ENSP00000499636.1:p.Pro1824_Asn1825insPhe...
ENST00000668547.1:c.5349_5350insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA ENSP00000499691.1:p.Pro1783_Asn1784insPhe...
ENST00000354534.10:c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA ENSP00000346534.4:p.Pro1824_Asn1825insPhe...
ENST00000355133.7:c.5349_5350insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA ENSP00000347255.4:p.Pro1783_Asn1784insPhe...
ENST00000545061.5:c.5349_5350insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA ENSP00000440360.1:p.Pro1783_Asn1784insPhe...
ENST00000599343.5:c.5505_5506insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA ENSP00000476447.3:p.Pro1835_Asn1836insPhe...
ENST00000627620.2:c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA ENSP00000487583.1:p.Pro1824_Asn1825insPhe...
NM_001177984.2:c.5349_5350insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA NP_001171455.1:p.Pro1783_Asn1784insPheAla...
NM_014191.3:c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA NP_055006.1:p.Pro1824_Asn1825insPheAlaAsp...
XM_006719556.2:c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA XP_006719619.1:p.Pro1824_Asn1825insPheAla...
XM_011538650.1:c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA XP_011536952.1:p.Pro1824_Asn1825insPheAla...
XM_011538651.1:c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA XP_011536953.1:p.Pro1824_Asn1825insPheAla...
NM_001330260.1:c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA NP_001317189.1:p.Pro1824_Asn1825insPheAla...
XM_006719556.4:c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA XP_006719619.1:p.Pro1824_Asn1825insPheAla...
XM_011538651.3:c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA XP_011536953.1:p.Pro1824_Asn1825insPheAla...
XM_017019794.2:c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA XP_016875283.1:p.Pro1824_Asn1825insPheAla...
XM_017019795.2:c.5349_5350insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA XP_016875284.1:p.Pro1783_Asn1784insPheAla...
NM_001330260.2:c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA MANE Select NP_001317189.1:p.Pro1824_Asn1825insPheAla...
NM_001369788.1:c.5349_5350insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA NP_001356717.1:p.Pro1783_Asn1784insPheAla...
NM_014191.4:c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA MANE Plus Clinical NP_055006.1:p.Pro1824_Asn1825insPheAlaAsp...
NM_001177984.3:c.5349_5350insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA NP_001171455.1:p.Pro1783_Asn1784insPheAla...