Canonical Allele Identifier: CA2573133693

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 1451948
• ClinVar RCV Id: RCV002007470
• dbSNP Id: rs2105429444

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165991959_165991960insG , CM000664.2:g.165991959_165991960insG	GRCh38
NC_000002.11:g.166848469_166848470insG , CM000664.1:g.166848469_166848470insG	GRCh37
NC_000002.10:g.166556715_166556716insG	NCBI36
NG_011906.1:g.86680_86681insC , LRG_8:g.86680_86681insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*3351_*3352insC	ENSP00000509637.1:n.*3351_*3352insC
ENST00000303395.9:c.5315_5316insC	ENSP00000303540.4:p.Ser1773IlefsTer22
ENST00000635750.1:c.5282_5283insC	ENSP00000490799.1:p.Ser1762IlefsTer22
ENST00000635776.1:c.*2148_*2149insC	ENSP00000490692.1:n.*2148_*2149insC
ENST00000636194.1:c.*2808_*2809insC	ENSP00000490288.1:n.*2808_*2809insC
ENST00000637038.1:c.2177_2178insC
ENST00000637988.1:c.5282_5283insC	ENSP00000490780.1:p.Ser1762IlefsTer22
ENST00000640036.1:c.5282_5283insC	ENSP00000491573.1:p.Ser1762IlefsTer22
ENST00000641575.1:c.5279_5280insC	ENSP00000492917.1:p.Ser1761IlefsTer22
ENST00000641603.1:c.5033_5034insC	ENSP00000492945.1:p.Ser1679IlefsTer22
ENST00000641996.1:c.*4869_*4870insC	ENSP00000493054.1:n.*4869_*4870insC
ENST00000671940.1:c.*3258_*3259insC	ENSP00000500336.1:n.*3258_*3259insC
ENST00000673490.1:n.7788_7789insC
ENST00000674923.1:c.5315_5316insC MANE Select	ENSP00000501589.1:p.Ser1773IlefsTer22
ENST00000303395.8:c.5315_5316insC	ENSP00000303540.4:p.Ser1773IlefsTer22
ENST00000375405.7:c.5282_5283insC	ENSP00000364554.3:p.Ser1762IlefsTer22
ENST00000409050.1:c.5231_5232insC	ENSP00000386312.1:p.Ser1745IlefsTer22
ENST00000423058.6:c.5315_5316insC	ENSP00000407030.2:p.Ser1773IlefsTer22
NM_001165963.1:c.5315_5316insC	NP_001159435.1:p.Ser1773IlefsTer22
NM_001165964.1:c.5231_5232insC	NP_001159436.1:p.Ser1745IlefsTer22
NM_001202435.1:c.5315_5316insC	NP_001189364.1:p.Ser1773IlefsTer22
NM_006920.4:c.5282_5283insC , LRG_8t1:c.5282_5283insC	NP_008851.3:p.Ser1762IlefsTer22
NR_110598.1:n.176-23654_176-23653insG
XM_011511598.1:c.5315_5316insC	XP_011509900.1:p.Ser1773IlefsTer22
XM_011511599.1:c.5315_5316insC	XP_011509901.1:p.Ser1773IlefsTer22
XM_011511600.1:c.5315_5316insC	XP_011509902.1:p.Ser1773IlefsTer22
XM_011511601.1:c.5315_5316insC	XP_011509903.1:p.Ser1773IlefsTer22
XM_011511602.1:c.5315_5316insC	XP_011509904.1:p.Ser1773IlefsTer22
XM_011511603.1:c.5312_5313insC	XP_011509905.1:p.Ser1772IlefsTer22
XM_011511604.1:c.5282_5283insC	XP_011509906.1:p.Ser1762IlefsTer22
XM_011511605.1:c.5279_5280insC	XP_011509907.1:p.Ser1761IlefsTer22
XM_011511606.1:c.5231_5232insC	XP_011509908.1:p.Ser1745IlefsTer22
XM_011511607.1:c.5033_5034insC	XP_011509909.1:p.Ser1679IlefsTer22
NM_001165963.2:c.5315_5316insC	NP_001159435.1:p.Ser1773IlefsTer22
NM_001165964.2:c.5231_5232insC	NP_001159436.1:p.Ser1745IlefsTer22
NM_001202435.2:c.5315_5316insC	NP_001189364.1:p.Ser1773IlefsTer22
NM_001353948.1:c.5315_5316insC	NP_001340877.1:p.Ser1773IlefsTer22
NM_001353949.1:c.5282_5283insC	NP_001340878.1:p.Ser1762IlefsTer22
NM_001353950.1:c.5282_5283insC	NP_001340879.1:p.Ser1762IlefsTer22
NM_001353951.1:c.5282_5283insC	NP_001340880.1:p.Ser1762IlefsTer22
NM_001353952.1:c.5282_5283insC	NP_001340881.1:p.Ser1762IlefsTer22
NM_001353954.1:c.5279_5280insC	NP_001340883.1:p.Ser1761IlefsTer22
NM_001353955.1:c.5279_5280insC	NP_001340884.1:p.Ser1761IlefsTer22
NM_001353957.1:c.5231_5232insC	NP_001340886.1:p.Ser1745IlefsTer22
NM_001353958.1:c.5231_5232insC	NP_001340887.1:p.Ser1745IlefsTer22
NM_001353960.1:c.5228_5229insC	NP_001340889.1:p.Ser1744IlefsTer22
NM_001353961.1:c.2873_2874insC	NP_001340890.1:p.Ser959IlefsTer22
NM_006920.5:c.5282_5283insC	NP_008851.3:p.Ser1762IlefsTer22
NR_148667.1:n.5751_5752insC
XR_001738883.1:n.5765_5766insC
XR_001738884.1:n.5737_5738insC
NM_001165963.3:c.5315_5316insC	NP_001159435.1:p.Ser1773IlefsTer22
NM_001165964.3:c.5231_5232insC	NP_001159436.1:p.Ser1745IlefsTer22
NM_001202435.3:c.5315_5316insC	NP_001189364.1:p.Ser1773IlefsTer22
NM_001353948.2:c.5315_5316insC	NP_001340877.1:p.Ser1773IlefsTer22
NM_001353949.2:c.5282_5283insC	NP_001340878.1:p.Ser1762IlefsTer22
NM_001353950.2:c.5282_5283insC	NP_001340879.1:p.Ser1762IlefsTer22
NM_001353951.2:c.5282_5283insC	NP_001340880.1:p.Ser1762IlefsTer22
NM_001353952.2:c.5282_5283insC	NP_001340881.1:p.Ser1762IlefsTer22
NM_001353954.2:c.5279_5280insC	NP_001340883.1:p.Ser1761IlefsTer22
NM_001353955.2:c.5279_5280insC	NP_001340884.1:p.Ser1761IlefsTer22
NM_001353957.2:c.5231_5232insC	NP_001340886.1:p.Ser1745IlefsTer22
NM_001353958.2:c.5231_5232insC	NP_001340887.1:p.Ser1745IlefsTer22
NM_001353960.2:c.5228_5229insC	NP_001340889.1:p.Ser1744IlefsTer22
NM_001353961.2:c.2873_2874insC	NP_001340890.1:p.Ser959IlefsTer22
NM_006920.6:c.5282_5283insC	NP_008851.3:p.Ser1762IlefsTer22
NR_148667.2:n.5732_5733insC
NM_001165963.4:c.5315_5316insC MANE Select	NP_001159435.1:p.Ser1773IlefsTer22