Canonical Allele Identifier: CA605238641

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 1163054
• ClinVar RCV Id: RCV001507800 ; RCV004528502
• dbSNP Id: rs1565934130
• gnomAD v2: 12-52200497-ATCT-A
• gnomAD v4: 12-51806713-ATCT-A
• MyVariant Identifiers: chr12:g.52200498_52200500del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51806721_51806723del , CM000674.2:g.51806721_51806723del	GRCh38
NC_000012.11:g.52200505_52200507del , CM000674.1:g.52200505_52200507del	GRCh37
NC_000012.10:g.50486772_50486774del	NCBI36
NG_021180.2:g.220486_220488del
NG_021180.3:g.221764_221766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.5235_5237del MANE Plus Clinical	ENSP00000346534.4:p.Phe1746del
ENST00000627620.5:c.5235_5237del MANE Select	ENSP00000487583.2:p.Phe1746del
ENST00000636945.2:c.3299_3301del
ENST00000662684.1:c.5235_5237del	ENSP00000499636.1:p.Phe1746del
ENST00000668547.1:c.5112_5114del	ENSP00000499691.1:p.Phe1705del
ENST00000354534.10:c.5235_5237del	ENSP00000346534.4:p.Phe1746del
ENST00000355133.7:c.5112_5114del	ENSP00000347255.4:p.Phe1705del
ENST00000545061.5:c.5112_5114del	ENSP00000440360.1:p.Phe1705del
ENST00000599343.5:c.5268_5270del	ENSP00000476447.3:p.Phe1757del
ENST00000627620.2:c.5235_5237del	ENSP00000487583.1:p.Phe1746del
NM_001177984.2:c.5112_5114del	NP_001171455.1:p.Phe1705del
NM_014191.3:c.5235_5237del	NP_055006.1:p.Phe1746del
XM_006719556.2:c.5235_5237del	XP_006719619.1:p.Phe1746del
XM_011538650.1:c.5235_5237del	XP_011536952.1:p.Phe1746del
XM_011538651.1:c.5235_5237del	XP_011536953.1:p.Phe1746del
NM_001330260.1:c.5235_5237del	NP_001317189.1:p.Phe1746del
XM_006719556.4:c.5235_5237del	XP_006719619.1:p.Phe1746del
XM_011538651.3:c.5235_5237del	XP_011536953.1:p.Phe1746del
XM_017019794.2:c.5235_5237del	XP_016875283.1:p.Phe1746del
XM_017019795.2:c.5112_5114del	XP_016875284.1:p.Phe1705del
NM_001330260.2:c.5235_5237del MANE Select	NP_001317189.1:p.Phe1746del
NM_001369788.1:c.5112_5114del	NP_001356717.1:p.Phe1705del
NM_014191.4:c.5235_5237del MANE Plus Clinical	NP_055006.1:p.Phe1746del
NM_001177984.3:c.5112_5114del	NP_001171455.1:p.Phe1705del