Canonical Allele Identifier: CA915942896
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 645614
ClinVar RCV Id: RCV000799732

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166043699_166051304del , CM000664.2:g.166043699_166051304del GRCh38
NC_000002.11:g.166900209_166907814del , CM000664.1:g.166900209_166907814del GRCh37
NC_000002.10:g.166608455_166616060del NCBI36
NG_011906.1:g.27345_34950del , LRG_8:g.27345_34950del

Transcript Alleles

HGVS Amino-acid change
ENST00000689288.1:c.964+424_2022del
ENST00000303395.9:c.964+424_2022del
ENST00000635750.1:c.964+424_2010+12del
ENST00000635776.1:c.964+424_2010+12del
ENST00000636194.1:c.964+424_2010+12del
ENST00000636759.1:c.*754+424_*1812del
ENST00000637968.1:n.1216+424_2274del
ENST00000637988.1:c.964+424_2010+12del
ENST00000640036.1:c.964+424_2010+12del
ENST00000641575.1:c.964+424_2007+12del
ENST00000641603.1:c.964+424_2022del
ENST00000641996.1:c.*518+424_*1576del
ENST00000671940.1:c.964+424_1876+146del
ENST00000673490.1:n.3437+424_4495del
ENST00000674923.1:c.964+424_2022del
ENST00000303395.8:c.964+424_2022del
ENST00000375405.7:c.964+424_2010+12del
ENST00000409050.1:c.964+424_1959+63del
ENST00000423058.6:c.964+424_2022del
NM_001165963.1:c.964+424_2022del
NM_001165964.1:c.964+424_1959+63del
NM_001202435.1:c.964+424_2022del
NM_006920.4:c.964+424_2010+12del , LRG_8t1:c.964+424_2010+12del
XM_011511598.1:c.964+424_2022del
XM_011511599.1:c.964+424_2022del
XM_011511600.1:c.964+424_2022del
XM_011511601.1:c.964+424_2022del
XM_011511602.1:c.964+424_2022del
XM_011511603.1:c.964+424_2019del
XM_011511604.1:c.964+424_2010+12del
XM_011511605.1:c.964+424_2007+12del
XM_011511606.1:c.964+424_1959+63del
XM_011511607.1:c.964+424_2022del
XR_922981.1:n.1148+424_2206del
NM_001165963.2:c.964+424_2022del
NM_001165964.2:c.964+424_1959+63del
NM_001202435.2:c.964+424_2022del
NM_001353948.1:c.964+424_2022del
NM_001353949.1:c.964+424_2010+12del
NM_001353950.1:c.964+424_2010+12del
NM_001353951.1:c.964+424_2010+12del
NM_001353952.1:c.964+424_2010+12del
NM_001353954.1:c.964+424_2007+12del
NM_001353955.1:c.964+424_2007+12del
NM_001353957.1:c.964+424_1959+63del
NM_001353958.1:c.964+424_1959+63del
NM_001353960.1:c.964+424_1956+63del
NM_001353961.1:c.-1462+424_-416+12del
NM_006920.5:c.964+424_2010+12del
NR_148667.1:n.1369+424_2415+12del
XR_001738883.1:n.1350+424_2408del
XR_001738884.1:n.1355+424_2401+12del
NM_001165963.3:c.964+424_2022del
NM_001165964.3:c.964+424_1959+63del
NM_001202435.3:c.964+424_2022del
NM_001353948.2:c.964+424_2022del
NM_001353949.2:c.964+424_2010+12del
NM_001353950.2:c.964+424_2010+12del
NM_001353951.2:c.964+424_2010+12del
NM_001353952.2:c.964+424_2010+12del
NM_001353954.2:c.964+424_2007+12del
NM_001353955.2:c.964+424_2007+12del
NM_001353957.2:c.964+424_1959+63del
NM_001353958.2:c.964+424_1959+63del
NM_001353960.2:c.964+424_1956+63del
NM_001353961.2:c.-1462+424_-416+12del
NM_006920.6:c.964+424_2010+12del
NR_148667.2:n.1350+424_2396+12del
NM_001165963.4:c.964+424_2022del