Canonical Allele Identifier: CA303304

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 189918
• ClinVar RCV Id: RCV000180870
• dbSNP Id: rs794726757
• MyVariant Identifiers: chr2:g.166850863_166850897dup35 (hg19) ; chr2:g.166850862_166850863insTCATGATGCTTATGTCAAAAACTTGTCTGGTTACG (hg19) ; chr2:g.165994353_165994387dup35 (hg38) ; chr2:g.165994352_165994353insTCATGATGCTTATGTCAAAAACTTGTCTGGTTACG (hg38)
• PubMed: PMID:26096185

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165994353_165994387dup , CM000664.2:g.165994353_165994387dup	GRCh38
NC_000002.11:g.166850863_166850897dup , CM000664.1:g.166850863_166850897dup	GRCh37
NC_000002.10:g.166559109_166559143dup	NCBI36
NG_011906.1:g.84253_84287dup , LRG_8:g.84253_84287dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*2647_*2681dup	ENSP00000509637.1:n.*2647_*2681dup
ENST00000303395.9:c.4611_4645dup	ENSP00000303540.4:p.Ile1549ThrfsTer2
ENST00000635750.1:c.4578_4612dup	ENSP00000490799.1:p.Ile1538ThrfsTer2
ENST00000635776.1:c.4578_4612dup	ENSP00000490692.1:p.Ile1538ThrfsTer2
ENST00000636194.1:c.*2104_*2138dup	ENSP00000490288.1:n.*2104_*2138dup
ENST00000637038.1:c.1473_1507dup
ENST00000637988.1:c.4578_4612dup	ENSP00000490780.1:p.Ile1538ThrfsTer2
ENST00000640036.1:c.4578_4612dup	ENSP00000491573.1:p.Ile1538ThrfsTer2
ENST00000641575.1:c.4575_4609dup	ENSP00000492917.1:p.Ile1537ThrfsTer2
ENST00000641603.1:c.4329_4363dup	ENSP00000492945.1:p.Ile1455ThrfsTer2
ENST00000641996.1:c.*4165_*4199dup	ENSP00000493054.1:n.*4165_*4199dup
ENST00000671940.1:c.*2554_*2588dup	ENSP00000500336.1:n.*2554_*2588dup
ENST00000673490.1:n.7084_7118dup
ENST00000674923.1:c.4611_4645dup MANE Select	ENSP00000501589.1:p.Ile1549ThrfsTer2
ENST00000303395.8:c.4611_4645dup	ENSP00000303540.4:p.Ile1549ThrfsTer2
ENST00000375405.7:c.4578_4612dup	ENSP00000364554.3:p.Ile1538ThrfsTer2
ENST00000409050.1:c.4527_4561dup	ENSP00000386312.1:p.Ile1521ThrfsTer2
ENST00000423058.6:c.4611_4645dup	ENSP00000407030.2:p.Ile1549ThrfsTer2
ENST00000625916.1:n.340_374dup
NM_001165963.1:c.4611_4645dup	NP_001159435.1:p.Ile1549ThrfsTer2
NM_001165964.1:c.4527_4561dup	NP_001159436.1:p.Ile1521ThrfsTer2
NM_001202435.1:c.4611_4645dup	NP_001189364.1:p.Ile1549ThrfsTer2
NM_006920.4:c.4578_4612dup , LRG_8t1:c.4578_4612dup	NP_008851.3:p.Ile1538ThrfsTer2
NR_110598.1:n.176-21260_176-21226dup
XM_011511598.1:c.4611_4645dup	XP_011509900.1:p.Ile1549ThrfsTer2
XM_011511599.1:c.4611_4645dup	XP_011509901.1:p.Ile1549ThrfsTer2
XM_011511600.1:c.4611_4645dup	XP_011509902.1:p.Ile1549ThrfsTer2
XM_011511601.1:c.4611_4645dup	XP_011509903.1:p.Ile1549ThrfsTer2
XM_011511602.1:c.4611_4645dup	XP_011509904.1:p.Ile1549ThrfsTer2
XM_011511603.1:c.4608_4642dup	XP_011509905.1:p.Ile1548ThrfsTer2
XM_011511604.1:c.4578_4612dup	XP_011509906.1:p.Ile1538ThrfsTer2
XM_011511605.1:c.4575_4609dup	XP_011509907.1:p.Ile1537ThrfsTer2
XM_011511606.1:c.4527_4561dup	XP_011509908.1:p.Ile1521ThrfsTer2
XM_011511607.1:c.4329_4363dup	XP_011509909.1:p.Ile1455ThrfsTer2
NM_001165963.2:c.4611_4645dup	NP_001159435.1:p.Ile1549ThrfsTer2
NM_001165964.2:c.4527_4561dup	NP_001159436.1:p.Ile1521ThrfsTer2
NM_001202435.2:c.4611_4645dup	NP_001189364.1:p.Ile1549ThrfsTer2
NM_001353948.1:c.4611_4645dup	NP_001340877.1:p.Ile1549ThrfsTer2
NM_001353949.1:c.4578_4612dup	NP_001340878.1:p.Ile1538ThrfsTer2
NM_001353950.1:c.4578_4612dup	NP_001340879.1:p.Ile1538ThrfsTer2
NM_001353951.1:c.4578_4612dup	NP_001340880.1:p.Ile1538ThrfsTer2
NM_001353952.1:c.4578_4612dup	NP_001340881.1:p.Ile1538ThrfsTer2
NM_001353954.1:c.4575_4609dup	NP_001340883.1:p.Ile1537ThrfsTer2
NM_001353955.1:c.4575_4609dup	NP_001340884.1:p.Ile1537ThrfsTer2
NM_001353957.1:c.4527_4561dup	NP_001340886.1:p.Ile1521ThrfsTer2
NM_001353958.1:c.4527_4561dup	NP_001340887.1:p.Ile1521ThrfsTer2
NM_001353960.1:c.4524_4558dup	NP_001340889.1:p.Ile1520ThrfsTer2
NM_001353961.1:c.2169_2203dup	NP_001340890.1:p.Ile735ThrfsTer2
NM_006920.5:c.4578_4612dup	NP_008851.3:p.Ile1538ThrfsTer2
NR_148667.1:n.5047_5081dup
XR_001738883.1:n.5061_5095dup
XR_001738884.1:n.5033_5067dup
NM_001165963.3:c.4611_4645dup	NP_001159435.1:p.Ile1549ThrfsTer2
NM_001165964.3:c.4527_4561dup	NP_001159436.1:p.Ile1521ThrfsTer2
NM_001202435.3:c.4611_4645dup	NP_001189364.1:p.Ile1549ThrfsTer2
NM_001353948.2:c.4611_4645dup	NP_001340877.1:p.Ile1549ThrfsTer2
NM_001353949.2:c.4578_4612dup	NP_001340878.1:p.Ile1538ThrfsTer2
NM_001353950.2:c.4578_4612dup	NP_001340879.1:p.Ile1538ThrfsTer2
NM_001353951.2:c.4578_4612dup	NP_001340880.1:p.Ile1538ThrfsTer2
NM_001353952.2:c.4578_4612dup	NP_001340881.1:p.Ile1538ThrfsTer2
NM_001353954.2:c.4575_4609dup	NP_001340883.1:p.Ile1537ThrfsTer2
NM_001353955.2:c.4575_4609dup	NP_001340884.1:p.Ile1537ThrfsTer2
NM_001353957.2:c.4527_4561dup	NP_001340886.1:p.Ile1521ThrfsTer2
NM_001353958.2:c.4527_4561dup	NP_001340887.1:p.Ile1521ThrfsTer2
NM_001353960.2:c.4524_4558dup	NP_001340889.1:p.Ile1520ThrfsTer2
NM_001353961.2:c.2169_2203dup	NP_001340890.1:p.Ile735ThrfsTer2
NM_006920.6:c.4578_4612dup	NP_008851.3:p.Ile1538ThrfsTer2
NR_148667.2:n.5028_5062dup
NM_001165963.4:c.4611_4645dup MANE Select	NP_001159435.1:p.Ile1549ThrfsTer2