Canonical Allele Identifier: CA605238558

Gene: SCN8A

Linked Data

• dbSNP Id: rs1565918218
• gnomAD v2: 12-52163166-CAG-C
• gnomAD v3: 12-51769382-CAG-C
• gnomAD v4: 12-51769382-CAG-C
• MyVariant Identifiers: chr12:g.52163167_52163168del (hg19) ; chr12:g.51769383_51769384del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51769383_51769384del , CM000674.2:g.51769383_51769384del	GRCh38
NC_000012.11:g.52163167_52163168del , CM000674.1:g.52163167_52163168del	GRCh37
NC_000012.10:g.50449434_50449435del	NCBI36
NG_021180.2:g.183148_183149del
NG_021180.3:g.184426_184427del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354534.11:c.3372+48_3372+49del MANE Plus Clinical	ENSP00000346534.4:n.3372+48_3372+49del
ENST00000548086.3:c.1219+48_1219+49del
ENST00000627620.5:c.3372+48_3372+49del MANE Select	ENSP00000487583.2:n.3372+48_3372+49del
ENST00000636945.2:c.1436+48_1436+49del
ENST00000662684.1:c.3372+48_3372+49del	ENSP00000499636.1:n.3372+48_3372+49del
ENST00000668547.1:c.3372+48_3372+49del	ENSP00000499691.1:n.3372+48_3372+49del
ENST00000354534.10:c.3372+48_3372+49del	ENSP00000346534.4:n.3372+48_3372+49del
ENST00000355133.7:c.3372+48_3372+49del	ENSP00000347255.4:n.3372+48_3372+49del
ENST00000545061.5:c.3372+48_3372+49del	ENSP00000440360.1:n.3372+48_3372+49del
ENST00000599343.5:c.3405+48_3405+49del	ENSP00000476447.3:n.3405+48_3405+49del
ENST00000627620.2:c.3372+48_3372+49del	ENSP00000487583.1:n.3372+48_3372+49del
ENST00000627665.1:n.364+48_364+49del
NM_001177984.2:c.3372+48_3372+49del	NP_001171455.1:n.3372+48_3372+49del
NM_014191.3:c.3372+48_3372+49del	NP_055006.1:n.3372+48_3372+49del
XM_006719556.2:c.3372+48_3372+49del	XP_006719619.1:n.3372+48_3372+49del
XM_011538650.1:c.3372+48_3372+49del	XP_011536952.1:n.3372+48_3372+49del
XM_011538651.1:c.3372+48_3372+49del	XP_011536953.1:n.3372+48_3372+49del
NM_001330260.1:c.3372+48_3372+49del	NP_001317189.1:n.3372+48_3372+49del
XM_006719556.4:c.3372+48_3372+49del	XP_006719619.1:n.3372+48_3372+49del
XM_011538651.3:c.3372+48_3372+49del	XP_011536953.1:n.3372+48_3372+49del
XM_017019794.2:c.3372+48_3372+49del	XP_016875283.1:n.3372+48_3372+49del
XM_017019795.2:c.3372+48_3372+49del	XP_016875284.1:n.3372+48_3372+49del
XM_017019796.1:c.3372+48_3372+49del	XP_016875285.1:n.3372+48_3372+49del
NM_001330260.2:c.3372+48_3372+49del MANE Select	NP_001317189.1:n.3372+48_3372+49del
NM_001369788.1:c.3372+48_3372+49del	NP_001356717.1:n.3372+48_3372+49del
NM_014191.4:c.3372+48_3372+49del MANE Plus Clinical	NP_055006.1:n.3372+48_3372+49del
NM_001177984.3:c.3372+48_3372+49del	NP_001171455.1:n.3372+48_3372+49del