Canonical Allele Identifier: CA16617295

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 424430
• ClinVar RCV Id: RCV000480815
• dbSNP Id: rs1064796964
• MyVariant Identifiers: chr2:g.166866275_166866278del (hg19) ; chr2:g.166009765_166009768del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166009765_166009768del , CM000664.2:g.166009765_166009768del	GRCh38
NC_000002.11:g.166866275_166866278del , CM000664.1:g.166866275_166866278del	GRCh37
NC_000002.10:g.166574521_166574524del	NCBI36
NG_011906.1:g.68872_68875del , LRG_8:g.68872_68875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*1989_*1992del	ENSP00000509637.1:n.*1989_*1992del
ENST00000303395.9:c.3953_3956del	ENSP00000303540.4:p.Leu1318GlnfsTer3
ENST00000635750.1:c.3920_3923del	ENSP00000490799.1:p.Leu1307GlnfsTer3
ENST00000635776.1:c.3920_3923del	ENSP00000490692.1:p.Leu1307GlnfsTer3
ENST00000636194.1:c.*1446_*1449del	ENSP00000490288.1:n.*1446_*1449del
ENST00000637038.1:c.751_754del
ENST00000637968.1:n.4205_4208del
ENST00000637988.1:c.3920_3923del	ENSP00000490780.1:p.Leu1307GlnfsTer3
ENST00000640036.1:c.3920_3923del	ENSP00000491573.1:p.Leu1307GlnfsTer3
ENST00000641575.1:c.3917_3920del	ENSP00000492917.1:p.Leu1306GlnfsTer3
ENST00000641603.1:c.3953_3956del	ENSP00000492945.1:p.Leu1318GlnfsTer3
ENST00000641996.1:c.*3507_*3510del	ENSP00000493054.1:n.*3507_*3510del
ENST00000671940.1:c.*1896_*1899del	ENSP00000500336.1:n.*1896_*1899del
ENST00000673490.1:n.6426_6429del
ENST00000674923.1:c.3953_3956del MANE Select	ENSP00000501589.1:p.Leu1318GlnfsTer3
ENST00000303395.8:c.3953_3956del	ENSP00000303540.4:p.Leu1318GlnfsTer3
ENST00000375405.7:c.3920_3923del	ENSP00000364554.3:p.Leu1307GlnfsTer3
ENST00000409050.1:c.3869_3872del	ENSP00000386312.1:p.Leu1290GlnfsTer3
ENST00000423058.6:c.3953_3956del	ENSP00000407030.2:p.Leu1318GlnfsTer3
NM_001165963.1:c.3953_3956del	NP_001159435.1:p.Leu1318GlnfsTer3
NM_001165964.1:c.3869_3872del	NP_001159436.1:p.Leu1290GlnfsTer3
NM_001202435.1:c.3953_3956del	NP_001189364.1:p.Leu1318GlnfsTer3
NM_006920.4:c.3920_3923del , LRG_8t1:c.3920_3923del	NP_008851.3:p.Leu1307GlnfsTer3
NR_110598.1:n.176-5848_176-5845del
XM_011511598.1:c.3953_3956del	XP_011509900.1:p.Leu1318GlnfsTer3
XM_011511599.1:c.3953_3956del	XP_011509901.1:p.Leu1318GlnfsTer3
XM_011511600.1:c.3953_3956del	XP_011509902.1:p.Leu1318GlnfsTer3
XM_011511601.1:c.3953_3956del	XP_011509903.1:p.Leu1318GlnfsTer3
XM_011511602.1:c.3953_3956del	XP_011509904.1:p.Leu1318GlnfsTer3
XM_011511603.1:c.3950_3953del	XP_011509905.1:p.Leu1317GlnfsTer3
XM_011511604.1:c.3920_3923del	XP_011509906.1:p.Leu1307GlnfsTer3
XM_011511605.1:c.3917_3920del	XP_011509907.1:p.Leu1306GlnfsTer3
XM_011511606.1:c.3869_3872del	XP_011509908.1:p.Leu1290GlnfsTer3
XM_011511607.1:c.3953_3956del	XP_011509909.1:p.Leu1318GlnfsTer3
XR_922981.1:n.4137_4140del
NM_001165963.2:c.3953_3956del	NP_001159435.1:p.Leu1318GlnfsTer3
NM_001165964.2:c.3869_3872del	NP_001159436.1:p.Leu1290GlnfsTer3
NM_001202435.2:c.3953_3956del	NP_001189364.1:p.Leu1318GlnfsTer3
NM_001353948.1:c.3953_3956del	NP_001340877.1:p.Leu1318GlnfsTer3
NM_001353949.1:c.3920_3923del	NP_001340878.1:p.Leu1307GlnfsTer3
NM_001353950.1:c.3920_3923del	NP_001340879.1:p.Leu1307GlnfsTer3
NM_001353951.1:c.3920_3923del	NP_001340880.1:p.Leu1307GlnfsTer3
NM_001353952.1:c.3920_3923del	NP_001340881.1:p.Leu1307GlnfsTer3
NM_001353954.1:c.3917_3920del	NP_001340883.1:p.Leu1306GlnfsTer3
NM_001353955.1:c.3917_3920del	NP_001340884.1:p.Leu1306GlnfsTer3
NM_001353957.1:c.3869_3872del	NP_001340886.1:p.Leu1290GlnfsTer3
NM_001353958.1:c.3869_3872del	NP_001340887.1:p.Leu1290GlnfsTer3
NM_001353960.1:c.3866_3869del	NP_001340889.1:p.Leu1289GlnfsTer3
NM_001353961.1:c.1511_1514del	NP_001340890.1:p.Leu504GlnfsTer3
NM_006920.5:c.3920_3923del	NP_008851.3:p.Leu1307GlnfsTer3
NR_148667.1:n.4325_4328del
XR_001738883.1:n.4339_4342del
XR_001738884.1:n.4311_4314del
NM_001165963.3:c.3953_3956del	NP_001159435.1:p.Leu1318GlnfsTer3
NM_001165964.3:c.3869_3872del	NP_001159436.1:p.Leu1290GlnfsTer3
NM_001202435.3:c.3953_3956del	NP_001189364.1:p.Leu1318GlnfsTer3
NM_001353948.2:c.3953_3956del	NP_001340877.1:p.Leu1318GlnfsTer3
NM_001353949.2:c.3920_3923del	NP_001340878.1:p.Leu1307GlnfsTer3
NM_001353950.2:c.3920_3923del	NP_001340879.1:p.Leu1307GlnfsTer3
NM_001353951.2:c.3920_3923del	NP_001340880.1:p.Leu1307GlnfsTer3
NM_001353952.2:c.3920_3923del	NP_001340881.1:p.Leu1307GlnfsTer3
NM_001353954.2:c.3917_3920del	NP_001340883.1:p.Leu1306GlnfsTer3
NM_001353955.2:c.3917_3920del	NP_001340884.1:p.Leu1306GlnfsTer3
NM_001353957.2:c.3869_3872del	NP_001340886.1:p.Leu1290GlnfsTer3
NM_001353958.2:c.3869_3872del	NP_001340887.1:p.Leu1290GlnfsTer3
NM_001353960.2:c.3866_3869del	NP_001340889.1:p.Leu1289GlnfsTer3
NM_001353961.2:c.1511_1514del	NP_001340890.1:p.Leu504GlnfsTer3
NM_006920.6:c.3920_3923del	NP_008851.3:p.Leu1307GlnfsTer3
NR_148667.2:n.4306_4309del
NM_001165963.4:c.3953_3956del MANE Select	NP_001159435.1:p.Leu1318GlnfsTer3