Canonical Allele Identifier: CA10642669
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 309428
ClinVar RCV Id: RCV000301573
dbSNP Id: rs371717199
gnomAD v2: 12-52205996-G-GGT
gnomAD v3: 12-51812212-G-GGT
gnomAD v4: 12-51812212-G-GGT
MyVariant Identifiers: chr12:g.52206014_52206015dupTG (hg19) chr12:g.52206000_52206001insGT (hg19) chr12:g.52205996_52205997insGT (hg19) chr12:g.51812230_51812231dupTG (hg38) chr12:g.51812216_51812217insGT (hg38) chr12:g.51812212_51812213insGT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51812230_51812231dup , CM000674.2:g.51812230_51812231dup GRCh38
NC_000012.11:g.52206014_52206015dup , CM000674.1:g.52206014_52206015dup GRCh37
NC_000012.10:g.50492281_50492282dup NCBI36
NG_021180.2:g.225995_225996dup
NG_021180.3:g.227273_227274dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.*4801_*4802dup MANE Plus Clinical ENSP00000346534.4:n.*4801_*4802dup
ENST00000627620.5:c.*4801_*4802dup MANE Select ENSP00000487583.2:n.*4801_*4802dup
ENST00000354534.10:c.*4801_*4802dup ENSP00000346534.4:n.*4801_*4802dup
ENST00000545061.5:c.*4801_*4802dup ENSP00000440360.1:n.*4801_*4802dup
NM_001177984.2:c.*4801_*4802dup NP_001171455.1:n.*4801_*4802dup
NM_014191.3:c.*4801_*4802dup NP_055006.1:n.*4801_*4802dup
NM_001330260.1:c.*4801_*4802dup NP_001317189.1:n.*4801_*4802dup
NM_001330260.2:c.*4801_*4802dup MANE Select NP_001317189.1:n.*4801_*4802dup
NM_001369788.1:c.*4801_*4802dup NP_001356717.1:n.*4801_*4802dup
NM_014191.4:c.*4801_*4802dup MANE Plus Clinical NP_055006.1:n.*4801_*4802dup
NM_001177984.3:c.*4801_*4802dup NP_001171455.1:n.*4801_*4802dup
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