Canonical Allele Identifier: CA202091

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 196030
• ClinVar RCV Id: RCV000176751 ; RCV000359420 ; RCV000713152 ; RCV001084759 ; RCV002317026
• dbSNP Id: rs555793953
• ExAC: 12:52201212 AGAG / A
• gnomAD v2: 12-52201212-AGAG-A
• gnomAD v3: 12-51807428-AGAG-A
• gnomAD v4: 12-51807428-AGAG-A
• MyVariant Identifiers: chr12:g.52201216_52201218del (hg19) ; chr12:g.52201213_52201215del (hg19) ; chr12:g.51807432_51807434del (hg38) ; chr12:g.51807430_51807432del (hg38) ; chr12:g.51807429_51807431del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51807432_51807434del , CM000674.2:g.51807432_51807434del	GRCh38
NC_000012.11:g.52201216_52201218del , CM000674.1:g.52201216_52201218del	GRCh37
NC_000012.10:g.50487483_50487485del	NCBI36
NG_021180.2:g.221197_221199del
NG_021180.3:g.222475_222477del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.*3_*5del MANE Plus Clinical	ENSP00000346534.4:n.*3_*5del
ENST00000627620.5:c.*3_*5del MANE Select	ENSP00000487583.2:n.*3_*5del
ENST00000662684.1:c.*3_*5del	ENSP00000499636.1:n.*3_*5del
ENST00000668547.1:c.*3_*5del	ENSP00000499691.1:n.*3_*5del
ENST00000354534.10:c.*3_*5del	ENSP00000346534.4:n.*3_*5del
ENST00000545061.5:c.*3_*5del	ENSP00000440360.1:n.*3_*5del
NM_001177984.2:c.*3_*5del	NP_001171455.1:n.*3_*5del
NM_014191.3:c.*3_*5del	NP_055006.1:n.*3_*5del
XM_006719556.2:c.*3_*5del	XP_006719619.1:n.*3_*5del
XM_011538650.1:c.*3_*5del	XP_011536952.1:n.*3_*5del
XM_011538651.1:c.*3_*5del	XP_011536953.1:n.*3_*5del
NM_001330260.1:c.*3_*5del	NP_001317189.1:n.*3_*5del
XM_006719556.4:c.*3_*5del	XP_006719619.1:n.*3_*5del
XM_011538651.3:c.*3_*5del	XP_011536953.1:n.*3_*5del
XM_017019794.2:c.*3_*5del	XP_016875283.1:n.*3_*5del
XM_017019795.2:c.*3_*5del	XP_016875284.1:n.*3_*5del
NM_001330260.2:c.*3_*5del MANE Select	NP_001317189.1:n.*3_*5del
NM_001369788.1:c.*3_*5del	NP_001356717.1:n.*3_*5del
NM_014191.4:c.*3_*5del MANE Plus Clinical	NP_055006.1:n.*3_*5del
NM_001177984.3:c.*3_*5del	NP_001171455.1:n.*3_*5del