Canonical Allele Identifier: CA915942886

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 644584
• ClinVar RCV Id: RCV000798537
• dbSNP Id: rs1574060717

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166013813_166013814delinsT , CM000664.2:g.166013813_166013814delinsT	GRCh38
NC_000002.11:g.166870323_166870324delinsT , CM000664.1:g.166870323_166870324delinsT	GRCh37
NC_000002.10:g.166578569_166578570delinsT	NCBI36
NG_011906.1:g.64826_64827delinsA , LRG_8:g.64826_64827delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*1671_*1672delinsA	ENSP00000509637.1:n.*1671_*1672delinsA
ENST00000303395.9:c.3635_3636delinsA	ENSP00000303540.4:p.Phe1212TyrfsTer3
ENST00000635750.1:c.3602_3603delinsA	ENSP00000490799.1:p.Phe1201TyrfsTer3
ENST00000635776.1:c.3602_3603delinsA	ENSP00000490692.1:p.Phe1201TyrfsTer3
ENST00000636194.1:c.*1128_*1129delinsA	ENSP00000490288.1:n.*1128_*1129delinsA
ENST00000637038.1:c.433_434delinsA
ENST00000637968.1:n.3887_3888delinsA
ENST00000637988.1:c.3602_3603delinsA	ENSP00000490780.1:p.Phe1201TyrfsTer3
ENST00000640036.1:c.3602_3603delinsA	ENSP00000491573.1:p.Phe1201TyrfsTer3
ENST00000641575.1:c.3599_3600delinsA	ENSP00000492917.1:p.Phe1200TyrfsTer3
ENST00000641603.1:c.3635_3636delinsA	ENSP00000492945.1:p.Phe1212TyrfsTer3
ENST00000641996.1:c.*3189_*3190delinsA	ENSP00000493054.1:n.*3189_*3190delinsA
ENST00000671940.1:c.*1578_*1579delinsA	ENSP00000500336.1:n.*1578_*1579delinsA
ENST00000673490.1:n.6108_6109delinsA
ENST00000674923.1:c.3635_3636delinsA MANE Select	ENSP00000501589.1:p.Phe1212TyrfsTer3
ENST00000303395.8:c.3635_3636delinsA	ENSP00000303540.4:p.Phe1212TyrfsTer3
ENST00000375405.7:c.3602_3603delinsA	ENSP00000364554.3:p.Phe1201TyrfsTer3
ENST00000409050.1:c.3551_3552delinsA	ENSP00000386312.1:p.Phe1184TyrfsTer3
ENST00000423058.6:c.3635_3636delinsA	ENSP00000407030.2:p.Phe1212TyrfsTer3
NM_001165963.1:c.3635_3636delinsA	NP_001159435.1:p.Phe1212TyrfsTer3
NM_001165964.1:c.3551_3552delinsA	NP_001159436.1:p.Phe1184TyrfsTer3
NM_001202435.1:c.3635_3636delinsA	NP_001189364.1:p.Phe1212TyrfsTer3
NM_006920.4:c.3602_3603delinsA , LRG_8t1:c.3602_3603delinsA	NP_008851.3:p.Phe1201TyrfsTer3
NR_110598.1:n.176-1800_176-1799delinsT
XM_011511598.1:c.3635_3636delinsA	XP_011509900.1:p.Phe1212TyrfsTer3
XM_011511599.1:c.3635_3636delinsA	XP_011509901.1:p.Phe1212TyrfsTer3
XM_011511600.1:c.3635_3636delinsA	XP_011509902.1:p.Phe1212TyrfsTer3
XM_011511601.1:c.3635_3636delinsA	XP_011509903.1:p.Phe1212TyrfsTer3
XM_011511602.1:c.3635_3636delinsA	XP_011509904.1:p.Phe1212TyrfsTer3
XM_011511603.1:c.3632_3633delinsA	XP_011509905.1:p.Phe1211TyrfsTer3
XM_011511604.1:c.3602_3603delinsA	XP_011509906.1:p.Phe1201TyrfsTer3
XM_011511605.1:c.3599_3600delinsA	XP_011509907.1:p.Phe1200TyrfsTer3
XM_011511606.1:c.3551_3552delinsA	XP_011509908.1:p.Phe1184TyrfsTer3
XM_011511607.1:c.3635_3636delinsA	XP_011509909.1:p.Phe1212TyrfsTer3
XR_922981.1:n.3819_3820delinsA
NM_001165963.2:c.3635_3636delinsA	NP_001159435.1:p.Phe1212TyrfsTer3
NM_001165964.2:c.3551_3552delinsA	NP_001159436.1:p.Phe1184TyrfsTer3
NM_001202435.2:c.3635_3636delinsA	NP_001189364.1:p.Phe1212TyrfsTer3
NM_001353948.1:c.3635_3636delinsA	NP_001340877.1:p.Phe1212TyrfsTer3
NM_001353949.1:c.3602_3603delinsA	NP_001340878.1:p.Phe1201TyrfsTer3
NM_001353950.1:c.3602_3603delinsA	NP_001340879.1:p.Phe1201TyrfsTer3
NM_001353951.1:c.3602_3603delinsA	NP_001340880.1:p.Phe1201TyrfsTer3
NM_001353952.1:c.3602_3603delinsA	NP_001340881.1:p.Phe1201TyrfsTer3
NM_001353954.1:c.3599_3600delinsA	NP_001340883.1:p.Phe1200TyrfsTer3
NM_001353955.1:c.3599_3600delinsA	NP_001340884.1:p.Phe1200TyrfsTer3
NM_001353957.1:c.3551_3552delinsA	NP_001340886.1:p.Phe1184TyrfsTer3
NM_001353958.1:c.3551_3552delinsA	NP_001340887.1:p.Phe1184TyrfsTer3
NM_001353960.1:c.3548_3549delinsA	NP_001340889.1:p.Phe1183TyrfsTer3
NM_001353961.1:c.1193_1194delinsA	NP_001340890.1:p.Phe398TyrfsTer3
NM_006920.5:c.3602_3603delinsA	NP_008851.3:p.Phe1201TyrfsTer3
NR_148667.1:n.4007_4008delinsA
XR_001738883.1:n.4021_4022delinsA
XR_001738884.1:n.3993_3994delinsA
NM_001165963.3:c.3635_3636delinsA	NP_001159435.1:p.Phe1212TyrfsTer3
NM_001165964.3:c.3551_3552delinsA	NP_001159436.1:p.Phe1184TyrfsTer3
NM_001202435.3:c.3635_3636delinsA	NP_001189364.1:p.Phe1212TyrfsTer3
NM_001353948.2:c.3635_3636delinsA	NP_001340877.1:p.Phe1212TyrfsTer3
NM_001353949.2:c.3602_3603delinsA	NP_001340878.1:p.Phe1201TyrfsTer3
NM_001353950.2:c.3602_3603delinsA	NP_001340879.1:p.Phe1201TyrfsTer3
NM_001353951.2:c.3602_3603delinsA	NP_001340880.1:p.Phe1201TyrfsTer3
NM_001353952.2:c.3602_3603delinsA	NP_001340881.1:p.Phe1201TyrfsTer3
NM_001353954.2:c.3599_3600delinsA	NP_001340883.1:p.Phe1200TyrfsTer3
NM_001353955.2:c.3599_3600delinsA	NP_001340884.1:p.Phe1200TyrfsTer3
NM_001353957.2:c.3551_3552delinsA	NP_001340886.1:p.Phe1184TyrfsTer3
NM_001353958.2:c.3551_3552delinsA	NP_001340887.1:p.Phe1184TyrfsTer3
NM_001353960.2:c.3548_3549delinsA	NP_001340889.1:p.Phe1183TyrfsTer3
NM_001353961.2:c.1193_1194delinsA	NP_001340890.1:p.Phe398TyrfsTer3
NM_006920.6:c.3602_3603delinsA	NP_008851.3:p.Phe1201TyrfsTer3
NR_148667.2:n.3988_3989delinsA
NM_001165963.4:c.3635_3636delinsA MANE Select	NP_001159435.1:p.Phe1212TyrfsTer3