Canonical Allele Identifier: CA16617305
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 420478
ClinVar RCV Id: RCV000478021
dbSNP Id: rs1064794503

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166041317_166041318insAGGGGAAAATACA , CM000664.2:g.166041317_166041318insAGGGGAAAATACA GRCh38
NC_000002.11:g.166897827_166897828insAGGGGAAAATACA , CM000664.1:g.166897827_166897828insAGGGGAAAATACA GRCh37
NC_000002.10:g.166606073_166606074insAGGGGAAAATACA NCBI36
NG_011906.1:g.37328_37329insTTCCCCTTGTATT , LRG_8:g.37328_37329insTTCCCCTTGTATT

Transcript Alleles

HGVS Amino-acid change
ENST00000689288.1:c.*370_*371insTTCCCCTTGTATT ENSP00000509637.1:n.*370_*371insTTCCCCTTG...
ENST00000303395.9:c.2334_2335insTTCCCCTTGTATT ENSP00000303540.4:p.Val779PhefsTer24
ENST00000635750.1:c.2301_2302insTTCCCCTTGTATT ENSP00000490799.1:p.Val768PhefsTer24
ENST00000635776.1:c.2301_2302insTTCCCCTTGTATT ENSP00000490692.1:p.Val768PhefsTer24
ENST00000636194.1:c.2301_2302insTTCCCCTTGTATT ENSP00000490288.1:p.Val768PhefsTer24
ENST00000636759.1:c.*2124_*2125insTTCCCCTTGTATT ENSP00000490895.1:n.*2124_*2125insTTCCCCT...
ENST00000637968.1:n.2586_2587insTTCCCCTTGTATT
ENST00000637988.1:c.2301_2302insTTCCCCTTGTATT ENSP00000490780.1:p.Val768PhefsTer24
ENST00000640036.1:c.2301_2302insTTCCCCTTGTATT ENSP00000491573.1:p.Val768PhefsTer24
ENST00000641575.1:c.2298_2299insTTCCCCTTGTATT ENSP00000492917.1:p.Val767PhefsTer24
ENST00000641603.1:c.2334_2335insTTCCCCTTGTATT ENSP00000492945.1:p.Val779PhefsTer24
ENST00000641996.1:c.*1888_*1889insTTCCCCTTGTATT ENSP00000493054.1:n.*1888_*1889insTTCCCCT...
ENST00000671940.1:c.*277_*278insTTCCCCTTGTATT ENSP00000500336.1:n.*277_*278insTTCCCCTTG...
ENST00000673490.1:n.4807_4808insTTCCCCTTGTATT
ENST00000674923.1:c.2334_2335insTTCCCCTTGTATT MANE Select ENSP00000501589.1:p.Val779PhefsTer24
ENST00000303395.8:c.2334_2335insTTCCCCTTGTATT ENSP00000303540.4:p.Val779PhefsTer24
ENST00000375405.7:c.2301_2302insTTCCCCTTGTATT ENSP00000364554.3:p.Val768PhefsTer24
ENST00000409050.1:n.2250_2251insTTCCCCTTGTATT ENSP00000386312.1:p.Val751PhefsTer24
ENST00000423058.6:c.2334_2335insTTCCCCTTGTATT ENSP00000407030.2:p.Val779PhefsTer24
NM_001165963.1:c.2334_2335insTTCCCCTTGTATT NP_001159435.1:p.Val779PhefsTer24
NM_001165964.1:c.2250_2251insTTCCCCTTGTATT NP_001159436.1:p.Val751PhefsTer24
NM_001202435.1:c.2334_2335insTTCCCCTTGTATT NP_001189364.1:p.Val779PhefsTer24
NM_006920.4:c.2301_2302insTTCCCCTTGTATT , LRG_8t1:c.2301_2302insTTCCCCTTGTATT NP_008851.3:p.Val768PhefsTer24
XM_011511598.1:c.2334_2335insTTCCCCTTGTATT XP_011509900.1:p.Val779PhefsTer24
XM_011511599.1:c.2334_2335insTTCCCCTTGTATT XP_011509901.1:p.Val779PhefsTer24
XM_011511600.1:c.2334_2335insTTCCCCTTGTATT XP_011509902.1:p.Val779PhefsTer24
XM_011511601.1:c.2334_2335insTTCCCCTTGTATT XP_011509903.1:p.Val779PhefsTer24
XM_011511602.1:c.2334_2335insTTCCCCTTGTATT XP_011509904.1:p.Val779PhefsTer24
XM_011511603.1:c.2331_2332insTTCCCCTTGTATT XP_011509905.1:p.Val778PhefsTer24
XM_011511604.1:c.2301_2302insTTCCCCTTGTATT XP_011509906.1:p.Val768PhefsTer24
XM_011511605.1:c.2298_2299insTTCCCCTTGTATT XP_011509907.1:p.Val767PhefsTer24
XM_011511606.1:c.2250_2251insTTCCCCTTGTATT XP_011509908.1:p.Val751PhefsTer24
XM_011511607.1:c.2334_2335insTTCCCCTTGTATT XP_011509909.1:p.Val779PhefsTer24
XR_922981.1:n.2518_2519insTTCCCCTTGTATT
NM_001165963.2:c.2334_2335insTTCCCCTTGTATT NP_001159435.1:p.Val779PhefsTer24
NM_001165964.2:c.2250_2251insTTCCCCTTGTATT NP_001159436.1:p.Val751PhefsTer24
NM_001202435.2:c.2334_2335insTTCCCCTTGTATT NP_001189364.1:p.Val779PhefsTer24
NM_001353948.1:c.2334_2335insTTCCCCTTGTATT NP_001340877.1:p.Val779PhefsTer24
NM_001353949.1:c.2301_2302insTTCCCCTTGTATT NP_001340878.1:p.Val768PhefsTer24
NM_001353950.1:c.2301_2302insTTCCCCTTGTATT NP_001340879.1:p.Val768PhefsTer24
NM_001353951.1:c.2301_2302insTTCCCCTTGTATT NP_001340880.1:p.Val768PhefsTer24
NM_001353952.1:c.2301_2302insTTCCCCTTGTATT NP_001340881.1:p.Val768PhefsTer24
NM_001353954.1:c.2298_2299insTTCCCCTTGTATT NP_001340883.1:p.Val767PhefsTer24
NM_001353955.1:c.2298_2299insTTCCCCTTGTATT NP_001340884.1:p.Val767PhefsTer24
NM_001353957.1:c.2250_2251insTTCCCCTTGTATT NP_001340886.1:p.Val751PhefsTer24
NM_001353958.1:c.2250_2251insTTCCCCTTGTATT NP_001340887.1:p.Val751PhefsTer24
NM_001353960.1:c.2247_2248insTTCCCCTTGTATT NP_001340889.1:p.Val750PhefsTer24
NM_001353961.1:c.-125_-124insTTCCCCTTGTATT NP_001340890.1:n.-125_-124insTTCCCCTTGTAT...
NM_006920.5:c.2301_2302insTTCCCCTTGTATT NP_008851.3:p.Val768PhefsTer24
NR_148667.1:n.2706_2707insTTCCCCTTGTATT
XR_001738883.1:n.2720_2721insTTCCCCTTGTATT
XR_001738884.1:n.2692_2693insTTCCCCTTGTATT
NM_001165963.3:c.2334_2335insTTCCCCTTGTATT NP_001159435.1:p.Val779PhefsTer24
NM_001165964.3:c.2250_2251insTTCCCCTTGTATT NP_001159436.1:p.Val751PhefsTer24
NM_001202435.3:c.2334_2335insTTCCCCTTGTATT NP_001189364.1:p.Val779PhefsTer24
NM_001353948.2:c.2334_2335insTTCCCCTTGTATT NP_001340877.1:p.Val779PhefsTer24
NM_001353949.2:c.2301_2302insTTCCCCTTGTATT NP_001340878.1:p.Val768PhefsTer24
NM_001353950.2:c.2301_2302insTTCCCCTTGTATT NP_001340879.1:p.Val768PhefsTer24
NM_001353951.2:c.2301_2302insTTCCCCTTGTATT NP_001340880.1:p.Val768PhefsTer24
NM_001353952.2:c.2301_2302insTTCCCCTTGTATT NP_001340881.1:p.Val768PhefsTer24
NM_001353954.2:c.2298_2299insTTCCCCTTGTATT NP_001340883.1:p.Val767PhefsTer24
NM_001353955.2:c.2298_2299insTTCCCCTTGTATT NP_001340884.1:p.Val767PhefsTer24
NM_001353957.2:c.2250_2251insTTCCCCTTGTATT NP_001340886.1:p.Val751PhefsTer24
NM_001353958.2:c.2250_2251insTTCCCCTTGTATT NP_001340887.1:p.Val751PhefsTer24
NM_001353960.2:c.2247_2248insTTCCCCTTGTATT NP_001340889.1:p.Val750PhefsTer24
NM_001353961.2:c.-125_-124insTTCCCCTTGTATT NP_001340890.1:n.-125_-124insTTCCCCTTGTAT...
NM_006920.6:c.2301_2302insTTCCCCTTGTATT NP_008851.3:p.Val768PhefsTer24
NR_148667.2:n.2687_2688insTTCCCCTTGTATT
NM_001165963.4:c.2334_2335insTTCCCCTTGTATT MANE Select NP_001159435.1:p.Val779PhefsTer24