Canonical Allele Identifier: CA303110
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189851
ClinVar RCV Id: RCV000180805
dbSNP Id: rs794726703

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165992023_165992025del , CM000664.2:g.165992023_165992025del GRCh38
NC_000002.11:g.166848533_166848535del , CM000664.1:g.166848533_166848535del GRCh37
NC_000002.10:g.166556779_166556781del NCBI36
NG_011906.1:g.86615_86617del , LRG_8:g.86615_86617del

Transcript Alleles

HGVS Amino-acid change
ENST00000689288.1:c.*3286_*3288del ENSP00000509637.1:n.*3286_*3288del
ENST00000303395.9:c.5250_5252del ENSP00000303540.4:p.Ser1750_Ser1751delins...
ENST00000635750.1:c.5217_5219del ENSP00000490799.1:p.Ser1739_Ser1740delins...
ENST00000635776.1:c.*2083_*2085del ENSP00000490692.1:n.*2083_*2085del
ENST00000636194.1:c.*2743_*2745del ENSP00000490288.1:n.*2743_*2745del
ENST00000637038.1:c.2112_2114del
ENST00000637988.1:c.5217_5219del ENSP00000490780.1:p.Ser1739_Ser1740delins...
ENST00000640036.1:c.5217_5219del ENSP00000491573.1:p.Ser1739_Ser1740delins...
ENST00000641575.1:c.5214_5216del ENSP00000492917.1:p.Ser1738_Ser1739delins...
ENST00000641603.1:c.4968_4970del ENSP00000492945.1:p.Ser1656_Ser1657delins...
ENST00000641996.1:c.*4804_*4806del ENSP00000493054.1:n.*4804_*4806del
ENST00000671940.1:c.*3193_*3195del ENSP00000500336.1:n.*3193_*3195del
ENST00000673490.1:n.7723_7725del
ENST00000674923.1:c.5250_5252del MANE Select ENSP00000501589.1:p.Ser1750_Ser1751delins...
ENST00000303395.8:c.5250_5252del ENSP00000303540.4:p.Ser1750_Ser1751delins...
ENST00000375405.7:c.5217_5219del ENSP00000364554.3:p.Ser1739_Ser1740delins...
ENST00000409050.1:c.5166_5168del ENSP00000386312.1:p.Ser1722_Ser1723delins...
ENST00000423058.6:c.5250_5252del ENSP00000407030.2:p.Ser1750_Ser1751delins...
NM_001165963.1:c.5250_5252del NP_001159435.1:p.Ser1750_Ser1751delinsArg...
NM_001165964.1:c.5166_5168del NP_001159436.1:p.Ser1722_Ser1723delinsArg...
NM_001202435.1:c.5250_5252del NP_001189364.1:p.Ser1750_Ser1751delinsArg...
NM_006920.4:c.5217_5219del , LRG_8t1:c.5217_5219del NP_008851.3:p.Ser1739_Ser1740delinsArg
NR_110598.1:n.176-23590_176-23588del
XM_011511598.1:c.5250_5252del XP_011509900.1:p.Ser1750_Ser1751delinsArg...
XM_011511599.1:c.5250_5252del XP_011509901.1:p.Ser1750_Ser1751delinsArg...
XM_011511600.1:c.5250_5252del XP_011509902.1:p.Ser1750_Ser1751delinsArg...
XM_011511601.1:c.5250_5252del XP_011509903.1:p.Ser1750_Ser1751delinsArg...
XM_011511602.1:c.5250_5252del XP_011509904.1:p.Ser1750_Ser1751delinsArg...
XM_011511603.1:c.5247_5249del XP_011509905.1:p.Ser1749_Ser1750delinsArg...
XM_011511604.1:c.5217_5219del XP_011509906.1:p.Ser1739_Ser1740delinsArg...
XM_011511605.1:c.5214_5216del XP_011509907.1:p.Ser1738_Ser1739delinsArg...
XM_011511606.1:c.5166_5168del XP_011509908.1:p.Ser1722_Ser1723delinsArg...
XM_011511607.1:c.4968_4970del XP_011509909.1:p.Ser1656_Ser1657delinsArg...
NM_001165963.2:c.5250_5252del NP_001159435.1:p.Ser1750_Ser1751delinsArg...
NM_001165964.2:c.5166_5168del NP_001159436.1:p.Ser1722_Ser1723delinsArg...
NM_001202435.2:c.5250_5252del NP_001189364.1:p.Ser1750_Ser1751delinsArg...
NM_001353948.1:c.5250_5252del NP_001340877.1:p.Ser1750_Ser1751delinsArg...
NM_001353949.1:c.5217_5219del NP_001340878.1:p.Ser1739_Ser1740delinsArg...
NM_001353950.1:c.5217_5219del NP_001340879.1:p.Ser1739_Ser1740delinsArg...
NM_001353951.1:c.5217_5219del NP_001340880.1:p.Ser1739_Ser1740delinsArg...
NM_001353952.1:c.5217_5219del NP_001340881.1:p.Ser1739_Ser1740delinsArg...
NM_001353954.1:c.5214_5216del NP_001340883.1:p.Ser1738_Ser1739delinsArg...
NM_001353955.1:c.5214_5216del NP_001340884.1:p.Ser1738_Ser1739delinsArg...
NM_001353957.1:c.5166_5168del NP_001340886.1:p.Ser1722_Ser1723delinsArg...
NM_001353958.1:c.5166_5168del NP_001340887.1:p.Ser1722_Ser1723delinsArg...
NM_001353960.1:c.5163_5165del NP_001340889.1:p.Ser1721_Ser1722delinsArg...
NM_001353961.1:c.2808_2810del NP_001340890.1:p.Ser936_Ser937delinsArg
NM_006920.5:c.5217_5219del NP_008851.3:p.Ser1739_Ser1740delinsArg
NR_148667.1:n.5686_5688del
XR_001738883.1:n.5700_5702del
XR_001738884.1:n.5672_5674del
NM_001165963.3:c.5250_5252del NP_001159435.1:p.Ser1750_Ser1751delinsArg...
NM_001165964.3:c.5166_5168del NP_001159436.1:p.Ser1722_Ser1723delinsArg...
NM_001202435.3:c.5250_5252del NP_001189364.1:p.Ser1750_Ser1751delinsArg...
NM_001353948.2:c.5250_5252del NP_001340877.1:p.Ser1750_Ser1751delinsArg...
NM_001353949.2:c.5217_5219del NP_001340878.1:p.Ser1739_Ser1740delinsArg...
NM_001353950.2:c.5217_5219del NP_001340879.1:p.Ser1739_Ser1740delinsArg...
NM_001353951.2:c.5217_5219del NP_001340880.1:p.Ser1739_Ser1740delinsArg...
NM_001353952.2:c.5217_5219del NP_001340881.1:p.Ser1739_Ser1740delinsArg...
NM_001353954.2:c.5214_5216del NP_001340883.1:p.Ser1738_Ser1739delinsArg...
NM_001353955.2:c.5214_5216del NP_001340884.1:p.Ser1738_Ser1739delinsArg...
NM_001353957.2:c.5166_5168del NP_001340886.1:p.Ser1722_Ser1723delinsArg...
NM_001353958.2:c.5166_5168del NP_001340887.1:p.Ser1722_Ser1723delinsArg...
NM_001353960.2:c.5163_5165del NP_001340889.1:p.Ser1721_Ser1722delinsArg...
NM_001353961.2:c.2808_2810del NP_001340890.1:p.Ser936_Ser937delinsArg
NM_006920.6:c.5217_5219del NP_008851.3:p.Ser1739_Ser1740delinsArg
NR_148667.2:n.5667_5669del
NM_001165963.4:c.5250_5252del MANE Select NP_001159435.1:p.Ser1750_Ser1751delinsArg...