Canonical Allele Identifier: CA605247821

Gene: SCN8A

Linked Data

• dbSNP Id: rs1565887659
• gnomAD v2: 12-52082907-CT-C
• gnomAD v4: 12-51689123-CT-C
• MyVariant Identifiers: chr12:g.52082908del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51689126del , CM000674.2:g.51689126del	GRCh38
NC_000012.11:g.52082910del , CM000674.1:g.52082910del	GRCh37
NC_000012.10:g.50369177del	NCBI36
NG_021180.2:g.102891del
NG_021180.3:g.104169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703687.1:n.2750del
ENST00000354534.11:c.706+277del MANE Plus Clinical	ENSP00000346534.4:n.706+277del
ENST00000627620.5:c.706+30del MANE Select	ENSP00000487583.2:n.706+30del
ENST00000637709.2:c.*251del	ENSP00000490470.1:n.*251del
ENST00000638820.1:c.706+30del	ENSP00000492157.1:n.706+30del
ENST00000662684.1:c.706+30del	ENSP00000499636.1:n.706+30del
ENST00000667214.1:c.706+277del	ENSP00000499724.1:n.706+277del
ENST00000668547.1:c.706+30del	ENSP00000499691.1:n.706+30del
ENST00000354534.10:c.706+277del	ENSP00000346534.4:n.706+277del
ENST00000355133.7:c.706+277del	ENSP00000347255.4:n.706+277del
ENST00000545061.5:c.706+277del	ENSP00000440360.1:n.706+277del
ENST00000550891.4:n.834+30del
ENST00000551216.2:c.256+30del	ENSP00000447567.2:n.256+30del
ENST00000599343.5:c.706+277del	ENSP00000476447.3:n.706+277del
ENST00000627620.2:c.706+30del	ENSP00000487583.1:n.706+30del
NM_001177984.2:c.706+277del	NP_001171455.1:n.706+277del
NM_014191.3:c.706+277del	NP_055006.1:n.706+277del
XM_006719556.2:c.706+30del	XP_006719619.1:n.706+30del
XM_011538650.1:c.706+30del	XP_011536952.1:n.706+30del
XM_011538651.1:c.706+30del	XP_011536953.1:n.706+30del
NM_001330260.1:c.706+30del	NP_001317189.1:n.706+30del
XM_006719556.4:c.706+30del	XP_006719619.1:n.706+30del
XM_011538651.3:c.706+30del	XP_011536953.1:n.706+30del
XM_017019794.2:c.706+277del	XP_016875283.1:n.706+277del
XM_017019795.2:c.706+30del	XP_016875284.1:n.706+30del
XM_017019796.1:c.706+30del	XP_016875285.1:n.706+30del
NM_001330260.2:c.706+30del MANE Select	NP_001317189.1:n.706+30del
NM_001369788.1:c.706+30del	NP_001356717.1:n.706+30del
NM_014191.4:c.706+277del MANE Plus Clinical	NP_055006.1:n.706+277del
NM_001177984.3:c.706+277del	NP_001171455.1:n.706+277del