Canonical Allele Identifier: CA2618840688

Gene: SCN8A

Linked Data

• gnomAD v4: 12-51765654-G-GTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51765664_51765665insTTTTTTTTTTTTTTTTTT , CM000674.2:g.51765664_51765665insTTTTTTTTTTTTTTTTTT	GRCh38
NC_000012.11:g.52159448_52159449insTTTTTTTTTTTTTTTTTT , CM000674.1:g.52159448_52159449insTTTTTTTTTTTTTTTTTT	GRCh37
NC_000012.10:g.50445715_50445716insTTTTTTTTTTTTTTTTTT	NCBI36
NG_021180.2:g.179429_179430insTTTTTTTTTTTTTTTTTT
NG_021180.3:g.180707_180708insTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT MANE Plus Clinical	ENSP00000346534.4:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
ENST00000548086.3:c.392-7_392-6insTTTTTTTTTTTTTTTTTT
ENST00000627620.5:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000487583.2:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
ENST00000636945.2:c.549-7_549-6insTTTTTTTTTTTTTTTTTT
ENST00000662684.1:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	ENSP00000499636.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
ENST00000668547.1:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	ENSP00000499691.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
ENST00000354534.10:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	ENSP00000346534.4:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
ENST00000355133.7:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	ENSP00000347255.4:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
ENST00000545061.5:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	ENSP00000440360.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
ENST00000550891.4:n.2673-7_2673-6insTTTTTTTTTTTTTTTTTT
ENST00000599343.5:c.2578-7_2578-6insTTTTTTTTTTTTTTTTTT	ENSP00000476447.3:n.2578-7_2578-6insTTTTTTTTTTTTTTTTTT
ENST00000627620.2:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	ENSP00000487583.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
NM_001177984.2:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	NP_001171455.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
NM_014191.3:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	NP_055006.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
XM_006719556.2:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	XP_006719619.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
XM_011538650.1:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	XP_011536952.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
XM_011538651.1:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	XP_011536953.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
NM_001330260.1:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	NP_001317189.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
XM_006719556.4:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	XP_006719619.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
XM_011538651.3:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	XP_011536953.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
XM_017019794.2:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	XP_016875283.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
XM_017019795.2:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	XP_016875284.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
XM_017019796.1:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	XP_016875285.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
NM_001330260.2:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT MANE Select	NP_001317189.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
NM_001369788.1:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	NP_001356717.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
NM_014191.4:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT MANE Plus Clinical	NP_055006.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT
NM_001177984.3:c.2545-7_2545-6insTTTTTTTTTTTTTTTTTT	NP_001171455.1:n.2545-7_2545-6insTTTTTTTTTTTTTTTTTT