Canonical Allele Identifier: CA16043682
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 374375
ClinVar RCV Id: RCV000415327
dbSNP Id: rs1040568931 rs1057518667
gnomAD v4: 12-51789402-A-G
MyVariant Identifiers: chr12:g.52183186A>G (hg19) chr12:g.51789402A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51789402A>G , CM000674.2:g.51789402A>G GRCh38
NC_000012.11:g.52183186A>G , CM000674.1:g.52183186A>G GRCh37
NC_000012.10:g.50469453A>G NCBI36
NG_021180.2:g.203167A>G
NG_021180.3:g.204445A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000354534.11:c.4403A>G MANE Plus Clinical ENSP00000346534.4:p.Asn1468Ser
ENST00000627620.5:c.4403A>G MANE Select ENSP00000487583.2:p.Asn1468Ser
ENST00000636945.2:c.2467A>G
ENST00000662684.1:c.4403A>G ENSP00000499636.1:p.Asn1468Ser
ENST00000668547.1:c.4280A>G ENSP00000499691.1:p.Asn1427Ser
ENST00000354534.10:c.4403A>G ENSP00000346534.4:p.Asn1468Ser
ENST00000355133.7:c.4280A>G ENSP00000347255.4:p.Asn1427Ser
ENST00000545061.5:c.4280A>G ENSP00000440360.1:p.Asn1427Ser
ENST00000599343.5:c.4436A>G ENSP00000476447.3:p.Asn1479Ser
ENST00000627620.2:c.4403A>G ENSP00000487583.1:p.Asn1468Ser
NM_001177984.2:c.4280A>G NP_001171455.1:p.Asn1427Ser
NM_014191.3:c.4403A>G NP_055006.1:p.Asn1468Ser
XM_006719556.2:c.4403A>G XP_006719619.1:p.Asn1468Ser
XM_011538650.1:c.4403A>G XP_011536952.1:p.Asn1468Ser
XM_011538651.1:c.4403A>G XP_011536953.1:p.Asn1468Ser
NM_001330260.1:c.4403A>G NP_001317189.1:p.Asn1468Ser
XM_006719556.4:c.4403A>G XP_006719619.1:p.Asn1468Ser
XM_011538651.3:c.4403A>G XP_011536953.1:p.Asn1468Ser
XM_017019794.2:c.4403A>G XP_016875283.1:p.Asn1468Ser
XM_017019795.2:c.4280A>G XP_016875284.1:p.Asn1427Ser
NM_001330260.2:c.4403A>G MANE Select NP_001317189.1:p.Asn1468Ser
NM_001369788.1:c.4280A>G NP_001356717.1:p.Asn1427Ser
NM_014191.4:c.4403A>G MANE Plus Clinical NP_055006.1:p.Asn1468Ser
NM_001177984.3:c.4280A>G NP_001171455.1:p.Asn1427Ser
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