Canonical Allele Identifier: CA16617294
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 422364
ClinVar RCV Id: RCV000487217
dbSNP Id: rs1064795733

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166009751_166009792del , CM000664.2:g.166009751_166009792del GRCh38
NC_000002.11:g.166866261_166866302del , CM000664.1:g.166866261_166866302del GRCh37
NC_000002.10:g.166574507_166574548del NCBI36
NG_011906.1:g.68848_68889del , LRG_8:g.68848_68889del

Transcript Alleles

HGVS Amino-acid change
ENST00000689288.1:c.*1965_*2006del ENSP00000509637.1:n.*1965_*2006del
ENST00000303395.9:c.3929_3970del ENSP00000303540.4:p.Gly1310_Leu1324delins...
ENST00000635750.1:c.3896_3937del ENSP00000490799.1:p.Gly1299_Leu1313delins...
ENST00000635776.1:c.3896_3937del ENSP00000490692.1:p.Gly1299_Leu1313delins...
ENST00000636194.1:c.*1422_*1463del ENSP00000490288.1:n.*1422_*1463del
ENST00000637038.1:c.727_768del
ENST00000637968.1:n.4181_4222del
ENST00000637988.1:c.3896_3937del ENSP00000490780.1:p.Gly1299_Leu1313delins...
ENST00000640036.1:c.3896_3937del ENSP00000491573.1:p.Gly1299_Leu1313delins...
ENST00000641575.1:c.3893_3934del ENSP00000492917.1:p.Gly1298_Leu1312delins...
ENST00000641603.1:c.3929_3970del ENSP00000492945.1:p.Gly1310_Leu1324delins...
ENST00000641996.1:c.*3483_*3524del ENSP00000493054.1:n.*3483_*3524del
ENST00000671940.1:c.*1872_*1913del ENSP00000500336.1:n.*1872_*1913del
ENST00000673490.1:n.6402_6443del
ENST00000674923.1:c.3929_3970del MANE Select ENSP00000501589.1:p.Gly1310_Leu1324delins...
ENST00000303395.8:c.3929_3970del ENSP00000303540.4:p.Gly1310_Leu1324delins...
ENST00000375405.7:c.3896_3937del ENSP00000364554.3:p.Gly1299_Leu1313delins...
ENST00000409050.1:c.3845_3886del ENSP00000386312.1:p.Gly1282_Leu1296delins...
ENST00000423058.6:c.3929_3970del ENSP00000407030.2:p.Gly1310_Leu1324delins...
NM_001165963.1:c.3929_3970del NP_001159435.1:p.Gly1310_Leu1324delinsVal...
NM_001165964.1:c.3845_3886del NP_001159436.1:p.Gly1282_Leu1296delinsVal...
NM_001202435.1:c.3929_3970del NP_001189364.1:p.Gly1310_Leu1324delinsVal...
NM_006920.4:c.3896_3937del , LRG_8t1:c.3896_3937del NP_008851.3:p.Gly1299_Leu1313delinsVal
NR_110598.1:n.176-5862_176-5821del
XM_011511598.1:c.3929_3970del XP_011509900.1:p.Gly1310_Leu1324delinsVal...
XM_011511599.1:c.3929_3970del XP_011509901.1:p.Gly1310_Leu1324delinsVal...
XM_011511600.1:c.3929_3970del XP_011509902.1:p.Gly1310_Leu1324delinsVal...
XM_011511601.1:c.3929_3970del XP_011509903.1:p.Gly1310_Leu1324delinsVal...
XM_011511602.1:c.3929_3970del XP_011509904.1:p.Gly1310_Leu1324delinsVal...
XM_011511603.1:c.3926_3967del XP_011509905.1:p.Gly1309_Leu1323delinsVal...
XM_011511604.1:c.3896_3937del XP_011509906.1:p.Gly1299_Leu1313delinsVal...
XM_011511605.1:c.3893_3934del XP_011509907.1:p.Gly1298_Leu1312delinsVal...
XM_011511606.1:c.3845_3886del XP_011509908.1:p.Gly1282_Leu1296delinsVal...
XM_011511607.1:c.3929_3970del XP_011509909.1:p.Gly1310_Leu1324delinsVal...
XR_922981.1:n.4113_4154del
NM_001165963.2:c.3929_3970del NP_001159435.1:p.Gly1310_Leu1324delinsVal...
NM_001165964.2:c.3845_3886del NP_001159436.1:p.Gly1282_Leu1296delinsVal...
NM_001202435.2:c.3929_3970del NP_001189364.1:p.Gly1310_Leu1324delinsVal...
NM_001353948.1:c.3929_3970del NP_001340877.1:p.Gly1310_Leu1324delinsVal...
NM_001353949.1:c.3896_3937del NP_001340878.1:p.Gly1299_Leu1313delinsVal...
NM_001353950.1:c.3896_3937del NP_001340879.1:p.Gly1299_Leu1313delinsVal...
NM_001353951.1:c.3896_3937del NP_001340880.1:p.Gly1299_Leu1313delinsVal...
NM_001353952.1:c.3896_3937del NP_001340881.1:p.Gly1299_Leu1313delinsVal...
NM_001353954.1:c.3893_3934del NP_001340883.1:p.Gly1298_Leu1312delinsVal...
NM_001353955.1:c.3893_3934del NP_001340884.1:p.Gly1298_Leu1312delinsVal...
NM_001353957.1:c.3845_3886del NP_001340886.1:p.Gly1282_Leu1296delinsVal...
NM_001353958.1:c.3845_3886del NP_001340887.1:p.Gly1282_Leu1296delinsVal...
NM_001353960.1:c.3842_3883del NP_001340889.1:p.Gly1281_Leu1295delinsVal...
NM_001353961.1:c.1487_1528del NP_001340890.1:p.Gly496_Leu510delinsVal
NM_006920.5:c.3896_3937del NP_008851.3:p.Gly1299_Leu1313delinsVal
NR_148667.1:n.4301_4342del
XR_001738883.1:n.4315_4356del
XR_001738884.1:n.4287_4328del
NM_001165963.3:c.3929_3970del NP_001159435.1:p.Gly1310_Leu1324delinsVal...
NM_001165964.3:c.3845_3886del NP_001159436.1:p.Gly1282_Leu1296delinsVal...
NM_001202435.3:c.3929_3970del NP_001189364.1:p.Gly1310_Leu1324delinsVal...
NM_001353948.2:c.3929_3970del NP_001340877.1:p.Gly1310_Leu1324delinsVal...
NM_001353949.2:c.3896_3937del NP_001340878.1:p.Gly1299_Leu1313delinsVal...
NM_001353950.2:c.3896_3937del NP_001340879.1:p.Gly1299_Leu1313delinsVal...
NM_001353951.2:c.3896_3937del NP_001340880.1:p.Gly1299_Leu1313delinsVal...
NM_001353952.2:c.3896_3937del NP_001340881.1:p.Gly1299_Leu1313delinsVal...
NM_001353954.2:c.3893_3934del NP_001340883.1:p.Gly1298_Leu1312delinsVal...
NM_001353955.2:c.3893_3934del NP_001340884.1:p.Gly1298_Leu1312delinsVal...
NM_001353957.2:c.3845_3886del NP_001340886.1:p.Gly1282_Leu1296delinsVal...
NM_001353958.2:c.3845_3886del NP_001340887.1:p.Gly1282_Leu1296delinsVal...
NM_001353960.2:c.3842_3883del NP_001340889.1:p.Gly1281_Leu1295delinsVal...
NM_001353961.2:c.1487_1528del NP_001340890.1:p.Gly496_Leu510delinsVal
NM_006920.6:c.3896_3937del NP_008851.3:p.Gly1299_Leu1313delinsVal
NR_148667.2:n.4282_4323del
NM_001165963.4:c.3929_3970del MANE Select NP_001159435.1:p.Gly1310_Leu1324delinsVal...