Canonical Allele Identifier: CA6571108

Gene: SCN8A

Linked Data

• dbSNP Id: rs751912610
• ExAC: 12:52082739 T / TTGTGTC
• gnomAD v2: 12-52082739-T-TTGTGTC
• gnomAD v4: 12-51688955-T-TTGTGTC
• MyVariant Identifiers: chr12:g.52082739_52082740insTGTGTC (hg19) ; chr12:g.51688955_51688956insTGTGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51688961_51688966dup , CM000674.2:g.51688961_51688966dup	GRCh38
NC_000012.11:g.52082745_52082750dup , CM000674.1:g.52082745_52082750dup	GRCh37
NC_000012.10:g.50369012_50369017dup	NCBI36
NG_021180.2:g.102726_102731dup
NG_021180.3:g.104004_104009dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703687.1:n.2585_2590dup
ENST00000354534.11:c.706+112_706+117dup MANE Plus Clinical	ENSP00000346534.4:n.706+112_706+117dup
ENST00000627620.5:c.615-44_615-39dup MANE Select	ENSP00000487583.2:n.615-44_615-39dup
ENST00000637709.2:c.*86_*91dup	ENSP00000490470.1:n.*86_*91dup
ENST00000638820.1:c.615-44_615-39dup	ENSP00000492157.1:n.615-44_615-39dup
ENST00000662684.1:c.615-44_615-39dup	ENSP00000499636.1:n.615-44_615-39dup
ENST00000667214.1:c.706+112_706+117dup	ENSP00000499724.1:n.706+112_706+117dup
ENST00000668547.1:c.615-44_615-39dup	ENSP00000499691.1:n.615-44_615-39dup
ENST00000354534.10:c.706+112_706+117dup	ENSP00000346534.4:n.706+112_706+117dup
ENST00000355133.7:c.706+112_706+117dup	ENSP00000347255.4:n.706+112_706+117dup
ENST00000545061.5:c.706+112_706+117dup	ENSP00000440360.1:n.706+112_706+117dup
ENST00000550891.4:n.743-44_743-39dup
ENST00000551216.2:c.165-44_165-39dup	ENSP00000447567.2:n.165-44_165-39dup
ENST00000599343.5:c.706+112_706+117dup	ENSP00000476447.3:n.706+112_706+117dup
ENST00000627620.2:c.615-44_615-39dup	ENSP00000487583.1:n.615-44_615-39dup
NM_001177984.2:c.706+112_706+117dup	NP_001171455.1:n.706+112_706+117dup
NM_014191.3:c.706+112_706+117dup	NP_055006.1:n.706+112_706+117dup
XM_006719556.2:c.615-44_615-39dup	XP_006719619.1:n.615-44_615-39dup
XM_011538650.1:c.615-44_615-39dup	XP_011536952.1:n.615-44_615-39dup
XM_011538651.1:c.615-44_615-39dup	XP_011536953.1:n.615-44_615-39dup
NM_001330260.1:c.615-44_615-39dup	NP_001317189.1:n.615-44_615-39dup
XM_006719556.4:c.615-44_615-39dup	XP_006719619.1:n.615-44_615-39dup
XM_011538651.3:c.615-44_615-39dup	XP_011536953.1:n.615-44_615-39dup
XM_017019794.2:c.706+112_706+117dup	XP_016875283.1:n.706+112_706+117dup
XM_017019795.2:c.615-44_615-39dup	XP_016875284.1:n.615-44_615-39dup
XM_017019796.1:c.615-44_615-39dup	XP_016875285.1:n.615-44_615-39dup
NM_001330260.2:c.615-44_615-39dup MANE Select	NP_001317189.1:n.615-44_615-39dup
NM_001369788.1:c.615-44_615-39dup	NP_001356717.1:n.615-44_615-39dup
NM_014191.4:c.706+112_706+117dup MANE Plus Clinical	NP_055006.1:n.706+112_706+117dup
NM_001177984.3:c.706+112_706+117dup	NP_001171455.1:n.706+112_706+117dup