Canonical Allele Identifier: CA10633133

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 309431
• ClinVar RCV Id: RCV000319621
• dbSNP Id: rs371717199
• gnomAD v2: 12-52205996-GGTGT-G
• gnomAD v3: 12-51812212-GGTGT-G
• gnomAD v4: 12-51812212-GGTGT-G
• MyVariant Identifiers: chr12:g.52206012_52206015del (hg19) ; chr12:g.52205997_52206000del (hg19) ; chr12:g.51812228_51812231del (hg38) ; chr12:g.51812213_51812216del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51812228_51812231del , CM000674.2:g.51812228_51812231del	GRCh38
NC_000012.11:g.52206012_52206015del , CM000674.1:g.52206012_52206015del	GRCh37
NC_000012.10:g.50492279_50492282del	NCBI36
NG_021180.2:g.225993_225996del
NG_021180.3:g.227271_227274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.*4799_*4802del MANE Plus Clinical	ENSP00000346534.4:n.*4799_*4802del
ENST00000627620.5:c.*4799_*4802del MANE Select	ENSP00000487583.2:n.*4799_*4802del
ENST00000354534.10:c.*4799_*4802del	ENSP00000346534.4:n.*4799_*4802del
ENST00000545061.5:c.*4799_*4802del	ENSP00000440360.1:n.*4799_*4802del
NM_001177984.2:c.*4799_*4802del	NP_001171455.1:n.*4799_*4802del
NM_014191.3:c.*4799_*4802del	NP_055006.1:n.*4799_*4802del
NM_001330260.1:c.*4799_*4802del	NP_001317189.1:n.*4799_*4802del
NM_001330260.2:c.*4799_*4802del MANE Select	NP_001317189.1:n.*4799_*4802del
NM_001369788.1:c.*4799_*4802del	NP_001356717.1:n.*4799_*4802del
NM_014191.4:c.*4799_*4802del MANE Plus Clinical	NP_055006.1:n.*4799_*4802del
NM_001177984.3:c.*4799_*4802del	NP_001171455.1:n.*4799_*4802del