Canonical Allele Identifier: CA10575719
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 192317
ClinVar RCV Id: RCV000172909 RCV001003602
dbSNP Id: rs876657399
MyVariant Identifiers: chr12:g.52162699C>G (hg19) chr12:g.51768915C>G (hg38)
PubMed: PMID:25725044 PMID:27559564
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51768915C>G , CM000674.2:g.51768915C>G GRCh38
NC_000012.11:g.52162699C>G , CM000674.1:g.52162699C>G GRCh37
NC_000012.10:g.50448966C>G NCBI36
NG_021180.2:g.182680C>G
NG_021180.3:g.183958C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000354534.11:c.2952C>G MANE Plus Clinical ENSP00000346534.4:p.Asn984Lys
ENST00000548086.3:c.799C>G
ENST00000627620.5:c.2952C>G MANE Select ENSP00000487583.2:p.Asn984Lys
ENST00000636945.2:c.1016C>G
ENST00000662684.1:c.2952C>G ENSP00000499636.1:p.Asn984Lys
ENST00000668547.1:c.2952C>G ENSP00000499691.1:p.Asn984Lys
ENST00000354534.10:c.2952C>G ENSP00000346534.4:p.Asn984Lys
ENST00000355133.7:c.2952C>G ENSP00000347255.4:p.Asn984Lys
ENST00000545061.5:c.2952C>G ENSP00000440360.1:p.Asn984Lys
ENST00000599343.5:c.2985C>G ENSP00000476447.3:p.Asn995Lys
ENST00000627620.2:c.2952C>G ENSP00000487583.1:p.Asn984Lys
NM_001177984.2:c.2952C>G NP_001171455.1:p.Asn984Lys
NM_014191.3:c.2952C>G NP_055006.1:p.Asn984Lys
XM_006719556.2:c.2952C>G XP_006719619.1:p.Asn984Lys
XM_011538650.1:c.2952C>G XP_011536952.1:p.Asn984Lys
XM_011538651.1:c.2952C>G XP_011536953.1:p.Asn984Lys
NM_001330260.1:c.2952C>G NP_001317189.1:p.Asn984Lys
XM_006719556.4:c.2952C>G XP_006719619.1:p.Asn984Lys
XM_011538651.3:c.2952C>G XP_011536953.1:p.Asn984Lys
XM_017019794.2:c.2952C>G XP_016875283.1:p.Asn984Lys
XM_017019795.2:c.2952C>G XP_016875284.1:p.Asn984Lys
XM_017019796.1:c.2952C>G XP_016875285.1:p.Asn984Lys
NM_001330260.2:c.2952C>G MANE Select NP_001317189.1:p.Asn984Lys
NM_001369788.1:c.2952C>G NP_001356717.1:p.Asn984Lys
NM_014191.4:c.2952C>G MANE Plus Clinical NP_055006.1:p.Asn984Lys
NM_001177984.3:c.2952C>G NP_001171455.1:p.Asn984Lys
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