Canonical Allele Identifier: CA2618843260

Gene: SCN8A

Linked Data

• gnomAD v4: 12-51789229-C-CAG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51789230_51789231insGA , CM000674.2:g.51789230_51789231insGA	GRCh38
NC_000012.11:g.52183014_52183015insGA , CM000674.1:g.52183014_52183015insGA	GRCh37
NC_000012.10:g.50469281_50469282insGA	NCBI36
NG_021180.2:g.202995_202996insGA
NG_021180.3:g.204273_204274insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.4282-51_4282-50insGA MANE Plus Clinical	ENSP00000346534.4:n.4282-51_4282-50insGA
ENST00000627620.5:c.4282-51_4282-50insGA MANE Select	ENSP00000487583.2:n.4282-51_4282-50insGA
ENST00000636945.2:c.2346-51_2346-50insGA
ENST00000662684.1:c.4282-51_4282-50insGA	ENSP00000499636.1:n.4282-51_4282-50insGA
ENST00000668547.1:c.4159-51_4159-50insGA	ENSP00000499691.1:n.4159-51_4159-50insGA
ENST00000354534.10:c.4282-51_4282-50insGA	ENSP00000346534.4:n.4282-51_4282-50insGA
ENST00000355133.7:c.4159-51_4159-50insGA	ENSP00000347255.4:n.4159-51_4159-50insGA
ENST00000545061.5:c.4159-51_4159-50insGA	ENSP00000440360.1:n.4159-51_4159-50insGA
ENST00000599343.5:c.4315-51_4315-50insGA	ENSP00000476447.3:n.4315-51_4315-50insGA
ENST00000627620.2:c.4282-51_4282-50insGA	ENSP00000487583.1:n.4282-51_4282-50insGA
NM_001177984.2:c.4159-51_4159-50insGA	NP_001171455.1:n.4159-51_4159-50insGA
NM_014191.3:c.4282-51_4282-50insGA	NP_055006.1:n.4282-51_4282-50insGA
XM_006719556.2:c.4282-51_4282-50insGA	XP_006719619.1:n.4282-51_4282-50insGA
XM_011538650.1:c.4282-51_4282-50insGA	XP_011536952.1:n.4282-51_4282-50insGA
XM_011538651.1:c.4282-51_4282-50insGA	XP_011536953.1:n.4282-51_4282-50insGA
NM_001330260.1:c.4282-51_4282-50insGA	NP_001317189.1:n.4282-51_4282-50insGA
XM_006719556.4:c.4282-51_4282-50insGA	XP_006719619.1:n.4282-51_4282-50insGA
XM_011538651.3:c.4282-51_4282-50insGA	XP_011536953.1:n.4282-51_4282-50insGA
XM_017019794.2:c.4282-51_4282-50insGA	XP_016875283.1:n.4282-51_4282-50insGA
XM_017019795.2:c.4159-51_4159-50insGA	XP_016875284.1:n.4159-51_4159-50insGA
NM_001330260.2:c.4282-51_4282-50insGA MANE Select	NP_001317189.1:n.4282-51_4282-50insGA
NM_001369788.1:c.4159-51_4159-50insGA	NP_001356717.1:n.4159-51_4159-50insGA
NM_014191.4:c.4282-51_4282-50insGA MANE Plus Clinical	NP_055006.1:n.4282-51_4282-50insGA
NM_001177984.3:c.4159-51_4159-50insGA	NP_001171455.1:n.4159-51_4159-50insGA