Canonical Allele Identifier: CA2573133487

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 1454302
• ClinVar RCV Id: RCV001939457
• dbSNP Id: rs2105570349

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166009779del , CM000664.2:g.166009779del	GRCh38
NC_000002.11:g.166866289del , CM000664.1:g.166866289del	GRCh37
NC_000002.10:g.166574535del	NCBI36
NG_011906.1:g.68861del , LRG_8:g.68861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*1978del	ENSP00000509637.1:n.*1978del
ENST00000303395.9:c.3942del	ENSP00000303540.4:p.Leu1315SerfsTer4
ENST00000635750.1:c.3909del	ENSP00000490799.1:p.Leu1304SerfsTer4
ENST00000635776.1:c.3909del	ENSP00000490692.1:p.Leu1304SerfsTer4
ENST00000636194.1:c.*1435del	ENSP00000490288.1:n.*1435del
ENST00000637038.1:c.740del
ENST00000637968.1:n.4194del
ENST00000637988.1:c.3909del	ENSP00000490780.1:p.Leu1304SerfsTer4
ENST00000640036.1:c.3909del	ENSP00000491573.1:p.Leu1304SerfsTer4
ENST00000641575.1:c.3906del	ENSP00000492917.1:p.Leu1303SerfsTer4
ENST00000641603.1:c.3942del	ENSP00000492945.1:p.Leu1315SerfsTer4
ENST00000641996.1:c.*3496del	ENSP00000493054.1:n.*3496del
ENST00000671940.1:c.*1885del	ENSP00000500336.1:n.*1885del
ENST00000673490.1:n.6415del
ENST00000674923.1:c.3942del MANE Select	ENSP00000501589.1:p.Leu1315SerfsTer4
ENST00000303395.8:c.3942del	ENSP00000303540.4:p.Leu1315SerfsTer4
ENST00000375405.7:c.3909del	ENSP00000364554.3:p.Leu1304SerfsTer4
ENST00000409050.1:c.3858del	ENSP00000386312.1:p.Leu1287SerfsTer4
ENST00000423058.6:c.3942del	ENSP00000407030.2:p.Leu1315SerfsTer4
NM_001165963.1:c.3942del	NP_001159435.1:p.Leu1315SerfsTer4
NM_001165964.1:c.3858del	NP_001159436.1:p.Leu1287SerfsTer4
NM_001202435.1:c.3942del	NP_001189364.1:p.Leu1315SerfsTer4
NM_006920.4:c.3909del , LRG_8t1:c.3909del	NP_008851.3:p.Leu1304SerfsTer4
NR_110598.1:n.176-5834del
XM_011511598.1:c.3942del	XP_011509900.1:p.Leu1315SerfsTer4
XM_011511599.1:c.3942del	XP_011509901.1:p.Leu1315SerfsTer4
XM_011511600.1:c.3942del	XP_011509902.1:p.Leu1315SerfsTer4
XM_011511601.1:c.3942del	XP_011509903.1:p.Leu1315SerfsTer4
XM_011511602.1:c.3942del	XP_011509904.1:p.Leu1315SerfsTer4
XM_011511603.1:c.3939del	XP_011509905.1:p.Leu1314SerfsTer4
XM_011511604.1:c.3909del	XP_011509906.1:p.Leu1304SerfsTer4
XM_011511605.1:c.3906del	XP_011509907.1:p.Leu1303SerfsTer4
XM_011511606.1:c.3858del	XP_011509908.1:p.Leu1287SerfsTer4
XM_011511607.1:c.3942del	XP_011509909.1:p.Leu1315SerfsTer4
XR_922981.1:n.4126del
NM_001165963.2:c.3942del	NP_001159435.1:p.Leu1315SerfsTer4
NM_001165964.2:c.3858del	NP_001159436.1:p.Leu1287SerfsTer4
NM_001202435.2:c.3942del	NP_001189364.1:p.Leu1315SerfsTer4
NM_001353948.1:c.3942del	NP_001340877.1:p.Leu1315SerfsTer4
NM_001353949.1:c.3909del	NP_001340878.1:p.Leu1304SerfsTer4
NM_001353950.1:c.3909del	NP_001340879.1:p.Leu1304SerfsTer4
NM_001353951.1:c.3909del	NP_001340880.1:p.Leu1304SerfsTer4
NM_001353952.1:c.3909del	NP_001340881.1:p.Leu1304SerfsTer4
NM_001353954.1:c.3906del	NP_001340883.1:p.Leu1303SerfsTer4
NM_001353955.1:c.3906del	NP_001340884.1:p.Leu1303SerfsTer4
NM_001353957.1:c.3858del	NP_001340886.1:p.Leu1287SerfsTer4
NM_001353958.1:c.3858del	NP_001340887.1:p.Leu1287SerfsTer4
NM_001353960.1:c.3855del	NP_001340889.1:p.Leu1286SerfsTer4
NM_001353961.1:c.1500del	NP_001340890.1:p.Leu501SerfsTer4
NM_006920.5:c.3909del	NP_008851.3:p.Leu1304SerfsTer4
NR_148667.1:n.4314del
XR_001738883.1:n.4328del
XR_001738884.1:n.4300del
NM_001165963.3:c.3942del	NP_001159435.1:p.Leu1315SerfsTer4
NM_001165964.3:c.3858del	NP_001159436.1:p.Leu1287SerfsTer4
NM_001202435.3:c.3942del	NP_001189364.1:p.Leu1315SerfsTer4
NM_001353948.2:c.3942del	NP_001340877.1:p.Leu1315SerfsTer4
NM_001353949.2:c.3909del	NP_001340878.1:p.Leu1304SerfsTer4
NM_001353950.2:c.3909del	NP_001340879.1:p.Leu1304SerfsTer4
NM_001353951.2:c.3909del	NP_001340880.1:p.Leu1304SerfsTer4
NM_001353952.2:c.3909del	NP_001340881.1:p.Leu1304SerfsTer4
NM_001353954.2:c.3906del	NP_001340883.1:p.Leu1303SerfsTer4
NM_001353955.2:c.3906del	NP_001340884.1:p.Leu1303SerfsTer4
NM_001353957.2:c.3858del	NP_001340886.1:p.Leu1287SerfsTer4
NM_001353958.2:c.3858del	NP_001340887.1:p.Leu1287SerfsTer4
NM_001353960.2:c.3855del	NP_001340889.1:p.Leu1286SerfsTer4
NM_001353961.2:c.1500del	NP_001340890.1:p.Leu501SerfsTer4
NM_006920.6:c.3909del	NP_008851.3:p.Leu1304SerfsTer4
NR_148667.2:n.4295del
NM_001165963.4:c.3942del MANE Select	NP_001159435.1:p.Leu1315SerfsTer4