Canonical Allele Identifier: CA480062247
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 510773
ClinVar RCV Id: RCV000609086
dbSNP Id: rs1555231039
MyVariant Identifiers: chr12:g.52200673G>A (hg19) chr12:g.51806889G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51806889G>A , CM000674.2:g.51806889G>A GRCh38
NC_000012.11:g.52200673G>A , CM000674.1:g.52200673G>A GRCh37
NC_000012.10:g.50486940G>A NCBI36
NG_021180.2:g.220654G>A
NG_021180.3:g.221932G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5403G>A MANE Plus Clinical ENSP00000346534.4:p.Gln1801=
ENST00000627620.5:c.5403G>A MANE Select ENSP00000487583.2:p.Gln1801=
ENST00000636945.2:c.3467G>A
ENST00000662684.1:c.5403G>A ENSP00000499636.1:p.Gln1801=
ENST00000668547.1:c.5280G>A ENSP00000499691.1:p.Gln1760=
ENST00000354534.10:c.5403G>A ENSP00000346534.4:p.Gln1801=
ENST00000355133.7:c.5280G>A ENSP00000347255.4:p.Gln1760=
ENST00000545061.5:c.5280G>A ENSP00000440360.1:p.Gln1760=
ENST00000599343.5:c.5436G>A ENSP00000476447.3:p.Gln1812=
ENST00000627620.2:c.5403G>A ENSP00000487583.1:p.Gln1801=
NM_001177984.2:c.5280G>A NP_001171455.1:p.Gln1760=
NM_014191.3:c.5403G>A NP_055006.1:p.Gln1801=
XM_006719556.2:c.5403G>A XP_006719619.1:p.Gln1801=
XM_011538650.1:c.5403G>A XP_011536952.1:p.Gln1801=
XM_011538651.1:c.5403G>A XP_011536953.1:p.Gln1801=
NM_001330260.1:c.5403G>A NP_001317189.1:p.Gln1801=
XM_006719556.4:c.5403G>A XP_006719619.1:p.Gln1801=
XM_011538651.3:c.5403G>A XP_011536953.1:p.Gln1801=
XM_017019794.2:c.5403G>A XP_016875283.1:p.Gln1801=
XM_017019795.2:c.5280G>A XP_016875284.1:p.Gln1760=
NM_001330260.2:c.5403G>A MANE Select NP_001317189.1:p.Gln1801=
NM_001369788.1:c.5280G>A NP_001356717.1:p.Gln1760=
NM_014191.4:c.5403G>A MANE Plus Clinical NP_055006.1:p.Gln1801=
NM_001177984.3:c.5280G>A NP_001171455.1:p.Gln1760=
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