Canonical Allele Identifier: CA605238587

Gene: SCN8A

Linked Data

• dbSNP Id: rs1257539752
• gnomAD v2: 12-52162752-T-TCG
• MyVariant Identifiers: chr12:g.52162752_52162753insCG (hg19) ; chr12:g.51768968_51768969insCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51768969_51768970insGC , CM000674.2:g.51768969_51768970insGC	GRCh38
NC_000012.11:g.52162753_52162754insGC , CM000674.1:g.52162753_52162754insGC	GRCh37
NC_000012.10:g.50449020_50449021insGC	NCBI36
NG_021180.2:g.182734_182735insGC
NG_021180.3:g.184012_184013insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.3006_3007insGC MANE Plus Clinical	ENSP00000346534.4:p.Arg1003AlafsTer12
ENST00000548086.3:c.853_854insGC
ENST00000627620.5:c.3006_3007insGC MANE Select	ENSP00000487583.2:p.Arg1003AlafsTer12
ENST00000636945.2:c.1070_1071insGC
ENST00000662684.1:c.3006_3007insGC	ENSP00000499636.1:p.Arg1003AlafsTer12
ENST00000668547.1:c.3006_3007insGC	ENSP00000499691.1:p.Arg1003AlafsTer12
ENST00000354534.10:c.3006_3007insGC	ENSP00000346534.4:p.Arg1003AlafsTer12
ENST00000355133.7:c.3006_3007insGC	ENSP00000347255.4:p.Arg1003AlafsTer12
ENST00000545061.5:c.3006_3007insGC	ENSP00000440360.1:p.Arg1003AlafsTer12
ENST00000599343.5:c.3039_3040insGC	ENSP00000476447.3:p.Arg1014AlafsTer12
ENST00000627620.2:c.3006_3007insGC	ENSP00000487583.1:p.Arg1003AlafsTer12
NM_001177984.2:c.3006_3007insGC	NP_001171455.1:p.Arg1003AlafsTer12
NM_014191.3:c.3006_3007insGC	NP_055006.1:p.Arg1003AlafsTer12
XM_006719556.2:c.3006_3007insGC	XP_006719619.1:p.Arg1003AlafsTer12
XM_011538650.1:c.3006_3007insGC	XP_011536952.1:p.Arg1003AlafsTer12
XM_011538651.1:c.3006_3007insGC	XP_011536953.1:p.Arg1003AlafsTer12
NM_001330260.1:c.3006_3007insGC	NP_001317189.1:p.Arg1003AlafsTer12
XM_006719556.4:c.3006_3007insGC	XP_006719619.1:p.Arg1003AlafsTer12
XM_011538651.3:c.3006_3007insGC	XP_011536953.1:p.Arg1003AlafsTer12
XM_017019794.2:c.3006_3007insGC	XP_016875283.1:p.Arg1003AlafsTer12
XM_017019795.2:c.3006_3007insGC	XP_016875284.1:p.Arg1003AlafsTer12
XM_017019796.1:c.3006_3007insGC	XP_016875285.1:p.Arg1003AlafsTer12
NM_001330260.2:c.3006_3007insGC MANE Select	NP_001317189.1:p.Arg1003AlafsTer12
NM_001369788.1:c.3006_3007insGC	NP_001356717.1:p.Arg1003AlafsTer12
NM_014191.4:c.3006_3007insGC MANE Plus Clinical	NP_055006.1:p.Arg1003AlafsTer12
NM_001177984.3:c.3006_3007insGC	NP_001171455.1:p.Arg1003AlafsTer12