Canonical Allele Identifier: CA1139655724

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 871602
• ClinVar RCV Id: RCV001091665
• dbSNP Id: rs1692162437

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166009765_166009766del , CM000664.2:g.166009765_166009766del	GRCh38
NC_000002.11:g.166866275_166866276del , CM000664.1:g.166866275_166866276del	GRCh37
NC_000002.10:g.166574521_166574522del	NCBI36
NG_011906.1:g.68876_68877del , LRG_8:g.68876_68877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*1993_*1994del	ENSP00000509637.1:n.*1993_*1994del
ENST00000303395.9:c.3957_3958del	ENSP00000303540.4:p.Arg1319SerfsTer12
ENST00000635750.1:c.3924_3925del	ENSP00000490799.1:p.Arg1308SerfsTer12
ENST00000635776.1:c.3924_3925del	ENSP00000490692.1:p.Arg1308SerfsTer12
ENST00000636194.1:c.*1450_*1451del	ENSP00000490288.1:n.*1450_*1451del
ENST00000637038.1:c.755_756del
ENST00000637968.1:n.4209_4210del
ENST00000637988.1:c.3924_3925del	ENSP00000490780.1:p.Arg1308SerfsTer12
ENST00000640036.1:c.3924_3925del	ENSP00000491573.1:p.Arg1308SerfsTer12
ENST00000641575.1:c.3921_3922del	ENSP00000492917.1:p.Arg1307SerfsTer12
ENST00000641603.1:c.3957_3958del	ENSP00000492945.1:p.Arg1319SerfsTer12
ENST00000641996.1:c.*3511_*3512del	ENSP00000493054.1:n.*3511_*3512del
ENST00000671940.1:c.*1900_*1901del	ENSP00000500336.1:n.*1900_*1901del
ENST00000673490.1:n.6430_6431del
ENST00000674923.1:c.3957_3958del MANE Select	ENSP00000501589.1:p.Arg1319SerfsTer12
ENST00000303395.8:c.3957_3958del	ENSP00000303540.4:p.Arg1319SerfsTer12
ENST00000375405.7:c.3924_3925del	ENSP00000364554.3:p.Arg1308SerfsTer12
ENST00000409050.1:c.3873_3874del	ENSP00000386312.1:p.Arg1291SerfsTer12
ENST00000423058.6:c.3957_3958del	ENSP00000407030.2:p.Arg1319SerfsTer12
NM_001165963.1:c.3957_3958del	NP_001159435.1:p.Arg1319SerfsTer12
NM_001165964.1:c.3873_3874del	NP_001159436.1:p.Arg1291SerfsTer12
NM_001202435.1:c.3957_3958del	NP_001189364.1:p.Arg1319SerfsTer12
NM_006920.4:c.3924_3925del , LRG_8t1:c.3924_3925del	NP_008851.3:p.Arg1308SerfsTer12
NR_110598.1:n.176-5848_176-5847del
XM_011511598.1:c.3957_3958del	XP_011509900.1:p.Arg1319SerfsTer12
XM_011511599.1:c.3957_3958del	XP_011509901.1:p.Arg1319SerfsTer12
XM_011511600.1:c.3957_3958del	XP_011509902.1:p.Arg1319SerfsTer12
XM_011511601.1:c.3957_3958del	XP_011509903.1:p.Arg1319SerfsTer12
XM_011511602.1:c.3957_3958del	XP_011509904.1:p.Arg1319SerfsTer12
XM_011511603.1:c.3954_3955del	XP_011509905.1:p.Arg1318SerfsTer12
XM_011511604.1:c.3924_3925del	XP_011509906.1:p.Arg1308SerfsTer12
XM_011511605.1:c.3921_3922del	XP_011509907.1:p.Arg1307SerfsTer12
XM_011511606.1:c.3873_3874del	XP_011509908.1:p.Arg1291SerfsTer12
XM_011511607.1:c.3957_3958del	XP_011509909.1:p.Arg1319SerfsTer12
XR_922981.1:n.4141_4142del
NM_001165963.2:c.3957_3958del	NP_001159435.1:p.Arg1319SerfsTer12
NM_001165964.2:c.3873_3874del	NP_001159436.1:p.Arg1291SerfsTer12
NM_001202435.2:c.3957_3958del	NP_001189364.1:p.Arg1319SerfsTer12
NM_001353948.1:c.3957_3958del	NP_001340877.1:p.Arg1319SerfsTer12
NM_001353949.1:c.3924_3925del	NP_001340878.1:p.Arg1308SerfsTer12
NM_001353950.1:c.3924_3925del	NP_001340879.1:p.Arg1308SerfsTer12
NM_001353951.1:c.3924_3925del	NP_001340880.1:p.Arg1308SerfsTer12
NM_001353952.1:c.3924_3925del	NP_001340881.1:p.Arg1308SerfsTer12
NM_001353954.1:c.3921_3922del	NP_001340883.1:p.Arg1307SerfsTer12
NM_001353955.1:c.3921_3922del	NP_001340884.1:p.Arg1307SerfsTer12
NM_001353957.1:c.3873_3874del	NP_001340886.1:p.Arg1291SerfsTer12
NM_001353958.1:c.3873_3874del	NP_001340887.1:p.Arg1291SerfsTer12
NM_001353960.1:c.3870_3871del	NP_001340889.1:p.Arg1290SerfsTer12
NM_001353961.1:c.1515_1516del	NP_001340890.1:p.Arg505SerfsTer12
NM_006920.5:c.3924_3925del	NP_008851.3:p.Arg1308SerfsTer12
NR_148667.1:n.4329_4330del
XR_001738883.1:n.4343_4344del
XR_001738884.1:n.4315_4316del
NM_001165963.3:c.3957_3958del	NP_001159435.1:p.Arg1319SerfsTer12
NM_001165964.3:c.3873_3874del	NP_001159436.1:p.Arg1291SerfsTer12
NM_001202435.3:c.3957_3958del	NP_001189364.1:p.Arg1319SerfsTer12
NM_001353948.2:c.3957_3958del	NP_001340877.1:p.Arg1319SerfsTer12
NM_001353949.2:c.3924_3925del	NP_001340878.1:p.Arg1308SerfsTer12
NM_001353950.2:c.3924_3925del	NP_001340879.1:p.Arg1308SerfsTer12
NM_001353951.2:c.3924_3925del	NP_001340880.1:p.Arg1308SerfsTer12
NM_001353952.2:c.3924_3925del	NP_001340881.1:p.Arg1308SerfsTer12
NM_001353954.2:c.3921_3922del	NP_001340883.1:p.Arg1307SerfsTer12
NM_001353955.2:c.3921_3922del	NP_001340884.1:p.Arg1307SerfsTer12
NM_001353957.2:c.3873_3874del	NP_001340886.1:p.Arg1291SerfsTer12
NM_001353958.2:c.3873_3874del	NP_001340887.1:p.Arg1291SerfsTer12
NM_001353960.2:c.3870_3871del	NP_001340889.1:p.Arg1290SerfsTer12
NM_001353961.2:c.1515_1516del	NP_001340890.1:p.Arg505SerfsTer12
NM_006920.6:c.3924_3925del	NP_008851.3:p.Arg1308SerfsTer12
NR_148667.2:n.4310_4311del
NM_001165963.4:c.3957_3958del MANE Select	NP_001159435.1:p.Arg1319SerfsTer12