Canonical Allele Identifier: CA303490

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 189989
• ClinVar RCV Id: RCV000180945
• dbSNP Id: rs794726820
• MyVariant Identifiers: chr2:g.166897837_166897838insA (hg19) ; chr2:g.166041327_166041328insA (hg38)
• PubMed: PMID:26096185

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166041327_166041328insA , CM000664.2:g.166041327_166041328insA	GRCh38
NC_000002.11:g.166897837_166897838insA , CM000664.1:g.166897837_166897838insA	GRCh37
NC_000002.10:g.166606083_166606084insA	NCBI36
NG_011906.1:g.37312_37313insT , LRG_8:g.37312_37313insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*354_*355insT	ENSP00000509637.1:n.*354_*355insT
ENST00000303395.9:c.2318_2319insT	ENSP00000303540.4:p.Ile774HisfsTer25
ENST00000635750.1:c.2285_2286insT	ENSP00000490799.1:p.Ile763HisfsTer25
ENST00000635776.1:c.2285_2286insT	ENSP00000490692.1:p.Ile763HisfsTer25
ENST00000636194.1:c.2285_2286insT	ENSP00000490288.1:p.Ile763HisfsTer25
ENST00000636759.1:c.*2108_*2109insT	ENSP00000490895.1:n.*2108_*2109insT
ENST00000637968.1:n.2570_2571insT
ENST00000637988.1:c.2285_2286insT	ENSP00000490780.1:p.Ile763HisfsTer25
ENST00000640036.1:c.2285_2286insT	ENSP00000491573.1:p.Ile763HisfsTer25
ENST00000641575.1:c.2282_2283insT	ENSP00000492917.1:p.Ile762HisfsTer25
ENST00000641603.1:c.2318_2319insT	ENSP00000492945.1:p.Ile774HisfsTer25
ENST00000641996.1:c.*1872_*1873insT	ENSP00000493054.1:n.*1872_*1873insT
ENST00000671940.1:c.*261_*262insT	ENSP00000500336.1:n.*261_*262insT
ENST00000673490.1:n.4791_4792insT
ENST00000674923.1:c.2318_2319insT MANE Select	ENSP00000501589.1:p.Ile774HisfsTer25
ENST00000303395.8:c.2318_2319insT	ENSP00000303540.4:p.Ile774HisfsTer25
ENST00000375405.7:c.2285_2286insT	ENSP00000364554.3:p.Ile763HisfsTer25
ENST00000409050.1:c.2234_2235insT	ENSP00000386312.1:p.Ile746HisfsTer25
ENST00000423058.6:c.2318_2319insT	ENSP00000407030.2:p.Ile774HisfsTer25
NM_001165963.1:c.2318_2319insT	NP_001159435.1:p.Ile774HisfsTer25
NM_001165964.1:c.2234_2235insT	NP_001159436.1:p.Ile746HisfsTer25
NM_001202435.1:c.2318_2319insT	NP_001189364.1:p.Ile774HisfsTer25
NM_006920.4:c.2285_2286insT , LRG_8t1:c.2285_2286insT	NP_008851.3:p.Ile763HisfsTer25
XM_011511598.1:c.2318_2319insT	XP_011509900.1:p.Ile774HisfsTer25
XM_011511599.1:c.2318_2319insT	XP_011509901.1:p.Ile774HisfsTer25
XM_011511600.1:c.2318_2319insT	XP_011509902.1:p.Ile774HisfsTer25
XM_011511601.1:c.2318_2319insT	XP_011509903.1:p.Ile774HisfsTer25
XM_011511602.1:c.2318_2319insT	XP_011509904.1:p.Ile774HisfsTer25
XM_011511603.1:c.2315_2316insT	XP_011509905.1:p.Ile773HisfsTer25
XM_011511604.1:c.2285_2286insT	XP_011509906.1:p.Ile763HisfsTer25
XM_011511605.1:c.2282_2283insT	XP_011509907.1:p.Ile762HisfsTer25
XM_011511606.1:c.2234_2235insT	XP_011509908.1:p.Ile746HisfsTer25
XM_011511607.1:c.2318_2319insT	XP_011509909.1:p.Ile774HisfsTer25
XR_922981.1:n.2502_2503insT
NM_001165963.2:c.2318_2319insT	NP_001159435.1:p.Ile774HisfsTer25
NM_001165964.2:c.2234_2235insT	NP_001159436.1:p.Ile746HisfsTer25
NM_001202435.2:c.2318_2319insT	NP_001189364.1:p.Ile774HisfsTer25
NM_001353948.1:c.2318_2319insT	NP_001340877.1:p.Ile774HisfsTer25
NM_001353949.1:c.2285_2286insT	NP_001340878.1:p.Ile763HisfsTer25
NM_001353950.1:c.2285_2286insT	NP_001340879.1:p.Ile763HisfsTer25
NM_001353951.1:c.2285_2286insT	NP_001340880.1:p.Ile763HisfsTer25
NM_001353952.1:c.2285_2286insT	NP_001340881.1:p.Ile763HisfsTer25
NM_001353954.1:c.2282_2283insT	NP_001340883.1:p.Ile762HisfsTer25
NM_001353955.1:c.2282_2283insT	NP_001340884.1:p.Ile762HisfsTer25
NM_001353957.1:c.2234_2235insT	NP_001340886.1:p.Ile746HisfsTer25
NM_001353958.1:c.2234_2235insT	NP_001340887.1:p.Ile746HisfsTer25
NM_001353960.1:c.2231_2232insT	NP_001340889.1:p.Ile745HisfsTer25
NM_001353961.1:c.-141_-140insT	NP_001340890.1:n.-141_-140insT
NM_006920.5:c.2285_2286insT	NP_008851.3:p.Ile763HisfsTer25
NR_148667.1:n.2690_2691insT
XR_001738883.1:n.2704_2705insT
XR_001738884.1:n.2676_2677insT
NM_001165963.3:c.2318_2319insT	NP_001159435.1:p.Ile774HisfsTer25
NM_001165964.3:c.2234_2235insT	NP_001159436.1:p.Ile746HisfsTer25
NM_001202435.3:c.2318_2319insT	NP_001189364.1:p.Ile774HisfsTer25
NM_001353948.2:c.2318_2319insT	NP_001340877.1:p.Ile774HisfsTer25
NM_001353949.2:c.2285_2286insT	NP_001340878.1:p.Ile763HisfsTer25
NM_001353950.2:c.2285_2286insT	NP_001340879.1:p.Ile763HisfsTer25
NM_001353951.2:c.2285_2286insT	NP_001340880.1:p.Ile763HisfsTer25
NM_001353952.2:c.2285_2286insT	NP_001340881.1:p.Ile763HisfsTer25
NM_001353954.2:c.2282_2283insT	NP_001340883.1:p.Ile762HisfsTer25
NM_001353955.2:c.2282_2283insT	NP_001340884.1:p.Ile762HisfsTer25
NM_001353957.2:c.2234_2235insT	NP_001340886.1:p.Ile746HisfsTer25
NM_001353958.2:c.2234_2235insT	NP_001340887.1:p.Ile746HisfsTer25
NM_001353960.2:c.2231_2232insT	NP_001340889.1:p.Ile745HisfsTer25
NM_001353961.2:c.-141_-140insT	NP_001340890.1:n.-141_-140insT
NM_006920.6:c.2285_2286insT	NP_008851.3:p.Ile763HisfsTer25
NR_148667.2:n.2671_2672insT
NM_001165963.4:c.2318_2319insT MANE Select	NP_001159435.1:p.Ile774HisfsTer25