Canonical Allele Identifier: CA6571911
Gene: SCN8A HGNC NCBI

Linked Data

dbSNP Id: rs755177287
ExAC: 12:52200641 A / C
gnomAD v2: 12-52200641-A-C
MyVariant Identifiers: chr12:g.52200641A>C (hg19) chr12:g.51806857A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51806857A>C , CM000674.2:g.51806857A>C GRCh38
NC_000012.11:g.52200641A>C , CM000674.1:g.52200641A>C GRCh37
NC_000012.10:g.50486908A>C NCBI36
NG_021180.2:g.220622A>C
NG_021180.3:g.221900A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5371A>C MANE Plus Clinical ENSP00000346534.4:p.Ile1791Leu
ENST00000627620.5:c.5371A>C MANE Select ENSP00000487583.2:p.Ile1791Leu
ENST00000636945.2:c.3435A>C
ENST00000662684.1:c.5371A>C ENSP00000499636.1:p.Ile1791Leu
ENST00000668547.1:c.5248A>C ENSP00000499691.1:p.Ile1750Leu
ENST00000354534.10:c.5371A>C ENSP00000346534.4:p.Ile1791Leu
ENST00000355133.7:c.5248A>C ENSP00000347255.4:p.Ile1750Leu
ENST00000545061.5:c.5248A>C ENSP00000440360.1:p.Ile1750Leu
ENST00000599343.5:c.5404A>C ENSP00000476447.3:p.Ile1802Leu
ENST00000627620.2:c.5371A>C ENSP00000487583.1:p.Ile1791Leu
NM_001177984.2:c.5248A>C NP_001171455.1:p.Ile1750Leu
NM_014191.3:c.5371A>C NP_055006.1:p.Ile1791Leu
XM_006719556.2:c.5371A>C XP_006719619.1:p.Ile1791Leu
XM_011538650.1:c.5371A>C XP_011536952.1:p.Ile1791Leu
XM_011538651.1:c.5371A>C XP_011536953.1:p.Ile1791Leu
NM_001330260.1:c.5371A>C NP_001317189.1:p.Ile1791Leu
XM_006719556.4:c.5371A>C XP_006719619.1:p.Ile1791Leu
XM_011538651.3:c.5371A>C XP_011536953.1:p.Ile1791Leu
XM_017019794.2:c.5371A>C XP_016875283.1:p.Ile1791Leu
XM_017019795.2:c.5248A>C XP_016875284.1:p.Ile1750Leu
NM_001330260.2:c.5371A>C MANE Select NP_001317189.1:p.Ile1791Leu
NM_001369788.1:c.5248A>C NP_001356717.1:p.Ile1750Leu
NM_014191.4:c.5371A>C MANE Plus Clinical NP_055006.1:p.Ile1791Leu
NM_001177984.3:c.5248A>C NP_001171455.1:p.Ile1750Leu
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