Canonical Allele Identifier: CA384908571
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2907429
ClinVar RCV Id: RCV003753672
MyVariant Identifiers: chr12:g.52183181C>G (hg19) chr12:g.51789397C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51789397C>G , CM000674.2:g.51789397C>G GRCh38
NC_000012.11:g.52183181C>G , CM000674.1:g.52183181C>G GRCh37
NC_000012.10:g.50469448C>G NCBI36
NG_021180.2:g.203162C>G
NG_021180.3:g.204440C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000354534.11:c.4398C>G MANE Plus Clinical ENSP00000346534.4:p.Asn1466Lys
ENST00000627620.5:c.4398C>G MANE Select ENSP00000487583.2:p.Asn1466Lys
ENST00000636945.2:c.2462C>G
ENST00000662684.1:c.4398C>G ENSP00000499636.1:p.Asn1466Lys
ENST00000668547.1:c.4275C>G ENSP00000499691.1:p.Asn1425Lys
ENST00000354534.10:c.4398C>G ENSP00000346534.4:p.Asn1466Lys
ENST00000355133.7:c.4275C>G ENSP00000347255.4:p.Asn1425Lys
ENST00000545061.5:c.4275C>G ENSP00000440360.1:p.Asn1425Lys
ENST00000599343.5:c.4431C>G ENSP00000476447.3:p.Asn1477Lys
ENST00000627620.2:c.4398C>G ENSP00000487583.1:p.Asn1466Lys
NM_001177984.2:c.4275C>G NP_001171455.1:p.Asn1425Lys
NM_014191.3:c.4398C>G NP_055006.1:p.Asn1466Lys
XM_006719556.2:c.4398C>G XP_006719619.1:p.Asn1466Lys
XM_011538650.1:c.4398C>G XP_011536952.1:p.Asn1466Lys
XM_011538651.1:c.4398C>G XP_011536953.1:p.Asn1466Lys
NM_001330260.1:c.4398C>G NP_001317189.1:p.Asn1466Lys
XM_006719556.4:c.4398C>G XP_006719619.1:p.Asn1466Lys
XM_011538651.3:c.4398C>G XP_011536953.1:p.Asn1466Lys
XM_017019794.2:c.4398C>G XP_016875283.1:p.Asn1466Lys
XM_017019795.2:c.4275C>G XP_016875284.1:p.Asn1425Lys
NM_001330260.2:c.4398C>G MANE Select NP_001317189.1:p.Asn1466Lys
NM_001369788.1:c.4275C>G NP_001356717.1:p.Asn1425Lys
NM_014191.4:c.4398C>G MANE Plus Clinical NP_055006.1:p.Asn1466Lys
NM_001177984.3:c.4275C>G NP_001171455.1:p.Asn1425Lys
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