Canonical Allele Identifier: CA303558
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 190015
ClinVar RCV Id: RCV000180971

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165991247_165999725del , CM000664.2:g.165991247_165999725del GRCh38
NC_000002.11:g.166847757_166856235del , CM000664.1:g.166847757_166856235del GRCh37
NC_000002.10:g.166556003_166564481del NCBI36
NG_011906.1:g.78917_87395del , LRG_8:g.78917_87395del

Transcript Alleles

HGVS Amino-acid change
ENST00000689288.1:c.*2374_*4066del
ENST00000303395.9:c.4338_6030del
ENST00000635750.1:c.4305_5997del
ENST00000635776.1:c.4305_*2863del
ENST00000636194.1:c.*1831_*3523del
ENST00000637038.1:c.1200_2892del
ENST00000637988.1:c.4305_5997del
ENST00000640036.1:c.4305_5997del
ENST00000641575.1:c.4302_5994del
ENST00000641603.1:c.4056_5748del
ENST00000641996.1:c.*3892_*5584del
ENST00000671940.1:c.*2281_*3973del
ENST00000673490.1:n.6811_8503del
ENST00000674923.1:c.4338_6030del
ENST00000303395.8:c.4338_6030del
ENST00000375405.7:c.4305_5997del
ENST00000409050.1:c.4254_5946del
ENST00000423058.6:c.4338_6030del
NM_001165963.1:c.4338_6030del
NM_001165964.1:c.4254_5946del
NM_001202435.1:c.4338_6030del
NM_006920.4:c.4305_5997del , LRG_8t1:c.4305_5997del
NR_110598.1:n.176-24366_176-15888del
XM_011511598.1:c.4338_6030del
XM_011511599.1:c.4338_6030del
XM_011511600.1:c.4338_6030del
XM_011511601.1:c.4338_6030del
XM_011511602.1:c.4338_6030del
XM_011511603.1:c.4335_6027del
XM_011511604.1:c.4305_5997del
XM_011511605.1:c.4302_5994del
XM_011511606.1:c.4254_5946del
XM_011511607.1:c.4056_5748del
NM_001165963.2:c.4338_6030del
NM_001165964.2:c.4254_5946del
NM_001202435.2:c.4338_6030del
NM_001353948.1:c.4338_6030del
NM_001353949.1:c.4305_5997del
NM_001353950.1:c.4305_5997del
NM_001353951.1:c.4305_5997del
NM_001353952.1:c.4305_5997del
NM_001353954.1:c.4302_5994del
NM_001353955.1:c.4302_5994del
NM_001353957.1:c.4254_5946del
NM_001353958.1:c.4254_5946del
NM_001353960.1:c.4251_5943del
NM_001353961.1:c.1896_3588del
NM_006920.5:c.4305_5997del
NR_148667.1:n.4774_6466del
XR_001738883.1:n.4788_6480del
XR_001738884.1:n.4760_6452del
NM_001165963.3:c.4338_6030del
NM_001165964.3:c.4254_5946del
NM_001202435.3:c.4338_6030del
NM_001353948.2:c.4338_6030del
NM_001353949.2:c.4305_5997del
NM_001353950.2:c.4305_5997del
NM_001353951.2:c.4305_5997del
NM_001353952.2:c.4305_5997del
NM_001353954.2:c.4302_5994del
NM_001353955.2:c.4302_5994del
NM_001353957.2:c.4254_5946del
NM_001353958.2:c.4254_5946del
NM_001353960.2:c.4251_5943del
NM_001353961.2:c.1896_3588del
NM_006920.6:c.4305_5997del
NR_148667.2:n.4755_6447del
NM_001165963.4:c.4338_6030del