Canonical Allele Identifier: CA303478
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189983
ClinVar RCV Id: RCV000180939
dbSNP Id: rs794726814

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165991986_165991993dup , CM000664.2:g.165991986_165991993dup GRCh38
NC_000002.11:g.166848496_166848503dup , CM000664.1:g.166848496_166848503dup GRCh37
NC_000002.10:g.166556742_166556749dup NCBI36
NG_011906.1:g.86649_86656dup , LRG_8:g.86649_86656dup

Transcript Alleles

HGVS Amino-acid change
ENST00000689288.1:c.*3320_*3327dup ENSP00000509637.1:n.*3320_*3327dup
ENST00000303395.9:c.5284_5291dup ENSP00000303540.4:p.Phe1764LeufsTer18
ENST00000635750.1:c.5251_5258dup ENSP00000490799.1:p.Phe1753LeufsTer18
ENST00000635776.1:c.*2117_*2124dup ENSP00000490692.1:n.*2117_*2124dup
ENST00000636194.1:c.*2777_*2784dup ENSP00000490288.1:n.*2777_*2784dup
ENST00000637038.1:c.2146_2153dup
ENST00000637988.1:c.5251_5258dup ENSP00000490780.1:p.Phe1753LeufsTer18
ENST00000640036.1:c.5251_5258dup ENSP00000491573.1:p.Phe1753LeufsTer18
ENST00000641575.1:c.5248_5255dup ENSP00000492917.1:p.Phe1752LeufsTer18
ENST00000641603.1:c.5002_5009dup ENSP00000492945.1:p.Phe1670LeufsTer18
ENST00000641996.1:c.*4838_*4845dup ENSP00000493054.1:n.*4838_*4845dup
ENST00000671940.1:c.*3227_*3234dup ENSP00000500336.1:n.*3227_*3234dup
ENST00000673490.1:n.7757_7764dup
ENST00000674923.1:c.5284_5291dup MANE Select ENSP00000501589.1:p.Phe1764LeufsTer18
ENST00000303395.8:c.5284_5291dup ENSP00000303540.4:p.Phe1764LeufsTer18
ENST00000375405.7:c.5251_5258dup ENSP00000364554.3:p.Phe1753LeufsTer18
ENST00000409050.1:c.5200_5207dup ENSP00000386312.1:p.Phe1736LeufsTer18
ENST00000423058.6:c.5284_5291dup ENSP00000407030.2:p.Phe1764LeufsTer18
NM_001165963.1:c.5284_5291dup NP_001159435.1:p.Phe1764LeufsTer18
NM_001165964.1:c.5200_5207dup NP_001159436.1:p.Phe1736LeufsTer18
NM_001202435.1:c.5284_5291dup NP_001189364.1:p.Phe1764LeufsTer18
NM_006920.4:c.5251_5258dup , LRG_8t1:c.5251_5258dup NP_008851.3:p.Phe1753LeufsTer18
NR_110598.1:n.176-23627_176-23620dup
XM_011511598.1:c.5284_5291dup XP_011509900.1:p.Phe1764LeufsTer18
XM_011511599.1:c.5284_5291dup XP_011509901.1:p.Phe1764LeufsTer18
XM_011511600.1:c.5284_5291dup XP_011509902.1:p.Phe1764LeufsTer18
XM_011511601.1:c.5284_5291dup XP_011509903.1:p.Phe1764LeufsTer18
XM_011511602.1:c.5284_5291dup XP_011509904.1:p.Phe1764LeufsTer18
XM_011511603.1:c.5281_5288dup XP_011509905.1:p.Phe1763LeufsTer18
XM_011511604.1:c.5251_5258dup XP_011509906.1:p.Phe1753LeufsTer18
XM_011511605.1:c.5248_5255dup XP_011509907.1:p.Phe1752LeufsTer18
XM_011511606.1:c.5200_5207dup XP_011509908.1:p.Phe1736LeufsTer18
XM_011511607.1:c.5002_5009dup XP_011509909.1:p.Phe1670LeufsTer18
NM_001165963.2:c.5284_5291dup NP_001159435.1:p.Phe1764LeufsTer18
NM_001165964.2:c.5200_5207dup NP_001159436.1:p.Phe1736LeufsTer18
NM_001202435.2:c.5284_5291dup NP_001189364.1:p.Phe1764LeufsTer18
NM_001353948.1:c.5284_5291dup NP_001340877.1:p.Phe1764LeufsTer18
NM_001353949.1:c.5251_5258dup NP_001340878.1:p.Phe1753LeufsTer18
NM_001353950.1:c.5251_5258dup NP_001340879.1:p.Phe1753LeufsTer18
NM_001353951.1:c.5251_5258dup NP_001340880.1:p.Phe1753LeufsTer18
NM_001353952.1:c.5251_5258dup NP_001340881.1:p.Phe1753LeufsTer18
NM_001353954.1:c.5248_5255dup NP_001340883.1:p.Phe1752LeufsTer18
NM_001353955.1:c.5248_5255dup NP_001340884.1:p.Phe1752LeufsTer18
NM_001353957.1:c.5200_5207dup NP_001340886.1:p.Phe1736LeufsTer18
NM_001353958.1:c.5200_5207dup NP_001340887.1:p.Phe1736LeufsTer18
NM_001353960.1:c.5197_5204dup NP_001340889.1:p.Phe1735LeufsTer18
NM_001353961.1:c.2842_2849dup NP_001340890.1:p.Phe950LeufsTer18
NM_006920.5:c.5251_5258dup NP_008851.3:p.Phe1753LeufsTer18
NR_148667.1:n.5720_5727dup
XR_001738883.1:n.5734_5741dup
XR_001738884.1:n.5706_5713dup
NM_001165963.3:c.5284_5291dup NP_001159435.1:p.Phe1764LeufsTer18
NM_001165964.3:c.5200_5207dup NP_001159436.1:p.Phe1736LeufsTer18
NM_001202435.3:c.5284_5291dup NP_001189364.1:p.Phe1764LeufsTer18
NM_001353948.2:c.5284_5291dup NP_001340877.1:p.Phe1764LeufsTer18
NM_001353949.2:c.5251_5258dup NP_001340878.1:p.Phe1753LeufsTer18
NM_001353950.2:c.5251_5258dup NP_001340879.1:p.Phe1753LeufsTer18
NM_001353951.2:c.5251_5258dup NP_001340880.1:p.Phe1753LeufsTer18
NM_001353952.2:c.5251_5258dup NP_001340881.1:p.Phe1753LeufsTer18
NM_001353954.2:c.5248_5255dup NP_001340883.1:p.Phe1752LeufsTer18
NM_001353955.2:c.5248_5255dup NP_001340884.1:p.Phe1752LeufsTer18
NM_001353957.2:c.5200_5207dup NP_001340886.1:p.Phe1736LeufsTer18
NM_001353958.2:c.5200_5207dup NP_001340887.1:p.Phe1736LeufsTer18
NM_001353960.2:c.5197_5204dup NP_001340889.1:p.Phe1735LeufsTer18
NM_001353961.2:c.2842_2849dup NP_001340890.1:p.Phe950LeufsTer18
NM_006920.6:c.5251_5258dup NP_008851.3:p.Phe1753LeufsTer18
NR_148667.2:n.5701_5708dup
NM_001165963.4:c.5284_5291dup MANE Select NP_001159435.1:p.Phe1764LeufsTer18