Canonical Allele Identifier: CA236259294

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 512614
• ClinVar RCV Id: RCV000611610 ; RCV002064105
• dbSNP Id: rs765408317
• gnomAD v4: 12-51684150-TTCTC-T
• MyVariant Identifiers: chr12:g.52077940_52077943del (hg19) ; chr12:g.52077935_52077938del (hg19) ; chr12:g.51684156_51684159del (hg38) ; chr12:g.51684151_51684154del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51684156_51684159del , CM000674.2:g.51684156_51684159del	GRCh38
NC_000012.11:g.52077940_52077943del , CM000674.1:g.52077940_52077943del	GRCh37
NC_000012.10:g.50364207_50364210del	NCBI36
NG_021180.2:g.97921_97924del
NG_021180.3:g.99199_99202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703687.1:n.506-18_506-15del
ENST00000354534.11:c.277-18_277-15del MANE Plus Clinical	ENSP00000346534.4:n.277-18_277-15del
ENST00000627620.5:c.277-18_277-15del MANE Select	ENSP00000487583.2:n.277-18_277-15del
ENST00000637709.2:c.277-18_277-15del	ENSP00000490470.1:n.277-18_277-15del
ENST00000638820.1:c.277-18_277-15del	ENSP00000492157.1:n.277-18_277-15del
ENST00000662684.1:c.277-18_277-15del	ENSP00000499636.1:n.277-18_277-15del
ENST00000667214.1:c.277-18_277-15del	ENSP00000499724.1:n.277-18_277-15del
ENST00000668547.1:c.277-18_277-15del	ENSP00000499691.1:n.277-18_277-15del
ENST00000354534.10:c.277-18_277-15del	ENSP00000346534.4:n.277-18_277-15del
ENST00000355133.7:c.277-18_277-15del	ENSP00000347255.4:n.277-18_277-15del
ENST00000545061.5:c.277-18_277-15del	ENSP00000440360.1:n.277-18_277-15del
ENST00000550891.4:n.405-18_405-15del
ENST00000599343.5:c.277-18_277-15del	ENSP00000476447.3:n.277-18_277-15del
ENST00000627620.2:c.277-18_277-15del	ENSP00000487583.1:n.277-18_277-15del
NM_001177984.2:c.277-18_277-15del	NP_001171455.1:n.277-18_277-15del
NM_014191.3:c.277-18_277-15del	NP_055006.1:n.277-18_277-15del
XM_006719556.2:c.277-18_277-15del	XP_006719619.1:n.277-18_277-15del
XM_011538650.1:c.277-18_277-15del	XP_011536952.1:n.277-18_277-15del
XM_011538651.1:c.277-18_277-15del	XP_011536953.1:n.277-18_277-15del
NM_001330260.1:c.277-18_277-15del	NP_001317189.1:n.277-18_277-15del
XM_006719556.4:c.277-18_277-15del	XP_006719619.1:n.277-18_277-15del
XM_011538651.3:c.277-18_277-15del	XP_011536953.1:n.277-18_277-15del
XM_017019794.2:c.277-18_277-15del	XP_016875283.1:n.277-18_277-15del
XM_017019795.2:c.277-18_277-15del	XP_016875284.1:n.277-18_277-15del
XM_017019796.1:c.277-18_277-15del	XP_016875285.1:n.277-18_277-15del
NM_001330260.2:c.277-18_277-15del MANE Select	NP_001317189.1:n.277-18_277-15del
NM_001369788.1:c.277-18_277-15del	NP_001356717.1:n.277-18_277-15del
NM_014191.4:c.277-18_277-15del MANE Plus Clinical	NP_055006.1:n.277-18_277-15del
NM_001177984.3:c.277-18_277-15del	NP_001171455.1:n.277-18_277-15del