Canonical Allele Identifier: CA947652639

Gene: SCN8A

Linked Data

• dbSNP Id: rs1938695773
• gnomAD v3: 12-51806123-C-CTTTTTGAG
• gnomAD v4: 12-51806123-C-CTTTTTGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51806123_51806124insTTTTTGAG , CM000674.2:g.51806123_51806124insTTTTTGAG	GRCh38
NC_000012.11:g.52199907_52199908insTTTTTGAG , CM000674.1:g.52199907_52199908insTTTTTGAG	GRCh37
NC_000012.10:g.50486174_50486175insTTTTTGAG	NCBI36
NG_021180.2:g.219888_219889insTTTTTGAG
NG_021180.3:g.221166_221167insTTTTTGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000354534.11:c.4796-159_4796-158insTTTTTGAG MANE Plus Clinical	ENSP00000346534.4:n.4796-159_4796-158insTTTTTGAG
ENST00000627620.5:c.4796-159_4796-158insTTTTTGAG MANE Select	ENSP00000487583.2:n.4796-159_4796-158insTTTTTGAG
ENST00000636945.2:c.2860-159_2860-158insTTTTTGAG
ENST00000662684.1:c.4796-159_4796-158insTTTTTGAG	ENSP00000499636.1:n.4796-159_4796-158insTTTTTGAG
ENST00000668547.1:c.4673-159_4673-158insTTTTTGAG	ENSP00000499691.1:n.4673-159_4673-158insTTTTTGAG
ENST00000354534.10:c.4796-159_4796-158insTTTTTGAG	ENSP00000346534.4:n.4796-159_4796-158insTTTTTGAG
ENST00000355133.7:c.4673-159_4673-158insTTTTTGAG	ENSP00000347255.4:n.4673-159_4673-158insTTTTTGAG
ENST00000545061.5:c.4673-159_4673-158insTTTTTGAG	ENSP00000440360.1:n.4673-159_4673-158insTTTTTGAG
ENST00000599343.5:c.4829-159_4829-158insTTTTTGAG	ENSP00000476447.3:n.4829-159_4829-158insTTTTTGAG
ENST00000627620.2:c.4796-159_4796-158insTTTTTGAG	ENSP00000487583.1:n.4796-159_4796-158insTTTTTGAG
NM_001177984.2:c.4673-159_4673-158insTTTTTGAG	NP_001171455.1:n.4673-159_4673-158insTTTTTGAG
NM_014191.3:c.4796-159_4796-158insTTTTTGAG	NP_055006.1:n.4796-159_4796-158insTTTTTGAG
XM_006719556.2:c.4796-159_4796-158insTTTTTGAG	XP_006719619.1:n.4796-159_4796-158insTTTTTGAG
XM_011538650.1:c.4796-159_4796-158insTTTTTGAG	XP_011536952.1:n.4796-159_4796-158insTTTTTGAG
XM_011538651.1:c.4796-159_4796-158insTTTTTGAG	XP_011536953.1:n.4796-159_4796-158insTTTTTGAG
NM_001330260.1:c.4796-159_4796-158insTTTTTGAG	NP_001317189.1:n.4796-159_4796-158insTTTTTGAG
XM_006719556.4:c.4796-159_4796-158insTTTTTGAG	XP_006719619.1:n.4796-159_4796-158insTTTTTGAG
XM_011538651.3:c.4796-159_4796-158insTTTTTGAG	XP_011536953.1:n.4796-159_4796-158insTTTTTGAG
XM_017019794.2:c.4796-159_4796-158insTTTTTGAG	XP_016875283.1:n.4796-159_4796-158insTTTTTGAG
XM_017019795.2:c.4673-159_4673-158insTTTTTGAG	XP_016875284.1:n.4673-159_4673-158insTTTTTGAG
NM_001330260.2:c.4796-159_4796-158insTTTTTGAG MANE Select	NP_001317189.1:n.4796-159_4796-158insTTTTTGAG
NM_001369788.1:c.4673-159_4673-158insTTTTTGAG	NP_001356717.1:n.4673-159_4673-158insTTTTTGAG
NM_014191.4:c.4796-159_4796-158insTTTTTGAG MANE Plus Clinical	NP_055006.1:n.4796-159_4796-158insTTTTTGAG
NM_001177984.3:c.4673-159_4673-158insTTTTTGAG	NP_001171455.1:n.4673-159_4673-158insTTTTTGAG