Canonical Allele Identifier: CA2499215191

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 1076415
• ClinVar RCV Id: RCV001390322
• dbSNP Id: rs2105508605

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166002571_166002574dup , CM000664.2:g.166002571_166002574dup	GRCh38
NC_000002.11:g.166859081_166859084dup , CM000664.1:g.166859081_166859084dup	GRCh37
NC_000002.10:g.166567327_166567330dup	NCBI36
NG_011906.1:g.76068_76071dup , LRG_8:g.76068_76071dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*2220_*2223dup	ENSP00000509637.1:n.*2220_*2223dup
ENST00000303395.9:c.4184_4187dup	ENSP00000303540.4:p.Cys1396Ter
ENST00000635750.1:c.4151_4154dup	ENSP00000490799.1:p.Cys1385Ter
ENST00000635776.1:c.4151_4154dup	ENSP00000490692.1:p.Cys1385Ter
ENST00000636194.1:c.*1677_*1680dup	ENSP00000490288.1:n.*1677_*1680dup
ENST00000637038.1:c.1046_1049dup
ENST00000637988.1:c.4151_4154dup	ENSP00000490780.1:p.Cys1385Ter
ENST00000640036.1:c.4151_4154dup	ENSP00000491573.1:p.Cys1385Ter
ENST00000641575.1:c.4148_4151dup	ENSP00000492917.1:p.Cys1384Ter
ENST00000641603.1:c.4003-2796_4003-2793dup	ENSP00000492945.1:n.4003-2796_4003-2793dup
ENST00000641996.1:c.*3738_*3741dup	ENSP00000493054.1:n.*3738_*3741dup
ENST00000671940.1:c.*2127_*2130dup	ENSP00000500336.1:n.*2127_*2130dup
ENST00000673490.1:n.6657_6660dup
ENST00000674923.1:c.4184_4187dup MANE Select	ENSP00000501589.1:p.Cys1396Ter
ENST00000303395.8:c.4184_4187dup	ENSP00000303540.4:p.Cys1396Ter
ENST00000375405.7:c.4151_4154dup	ENSP00000364554.3:p.Cys1385Ter
ENST00000409050.1:c.4100_4103dup	ENSP00000386312.1:p.Cys1368Ter
ENST00000423058.6:c.4184_4187dup	ENSP00000407030.2:p.Cys1396Ter
ENST00000491429.1:n.337_340dup
NM_001165963.1:c.4184_4187dup	NP_001159435.1:p.Cys1396Ter
NM_001165964.1:c.4100_4103dup	NP_001159436.1:p.Cys1368Ter
NM_001202435.1:c.4184_4187dup	NP_001189364.1:p.Cys1396Ter
NM_006920.4:c.4151_4154dup , LRG_8t1:c.4151_4154dup	NP_008851.3:p.Cys1385Ter
NR_110598.1:n.176-13042_176-13039dup
XM_011511598.1:c.4184_4187dup	XP_011509900.1:p.Cys1396Ter
XM_011511599.1:c.4184_4187dup	XP_011509901.1:p.Cys1396Ter
XM_011511600.1:c.4184_4187dup	XP_011509902.1:p.Cys1396Ter
XM_011511601.1:c.4184_4187dup	XP_011509903.1:p.Cys1396Ter
XM_011511602.1:c.4184_4187dup	XP_011509904.1:p.Cys1396Ter
XM_011511603.1:c.4181_4184dup	XP_011509905.1:p.Cys1395Ter
XM_011511604.1:c.4151_4154dup	XP_011509906.1:p.Cys1385Ter
XM_011511605.1:c.4148_4151dup	XP_011509907.1:p.Cys1384Ter
XM_011511606.1:c.4100_4103dup	XP_011509908.1:p.Cys1368Ter
XM_011511607.1:c.4003-2796_4003-2793dup	XP_011509909.1:n.4003-2796_4003-2793dup
XR_922981.1:n.4432_4435dup
NM_001165963.2:c.4184_4187dup	NP_001159435.1:p.Cys1396Ter
NM_001165964.2:c.4100_4103dup	NP_001159436.1:p.Cys1368Ter
NM_001202435.2:c.4184_4187dup	NP_001189364.1:p.Cys1396Ter
NM_001353948.1:c.4184_4187dup	NP_001340877.1:p.Cys1396Ter
NM_001353949.1:c.4151_4154dup	NP_001340878.1:p.Cys1385Ter
NM_001353950.1:c.4151_4154dup	NP_001340879.1:p.Cys1385Ter
NM_001353951.1:c.4151_4154dup	NP_001340880.1:p.Cys1385Ter
NM_001353952.1:c.4151_4154dup	NP_001340881.1:p.Cys1385Ter
NM_001353954.1:c.4148_4151dup	NP_001340883.1:p.Cys1384Ter
NM_001353955.1:c.4148_4151dup	NP_001340884.1:p.Cys1384Ter
NM_001353957.1:c.4100_4103dup	NP_001340886.1:p.Cys1368Ter
NM_001353958.1:c.4100_4103dup	NP_001340887.1:p.Cys1368Ter
NM_001353960.1:c.4097_4100dup	NP_001340889.1:p.Cys1367Ter
NM_001353961.1:c.1742_1745dup	NP_001340890.1:p.Cys582Ter
NM_006920.5:c.4151_4154dup	NP_008851.3:p.Cys1385Ter
NR_148667.1:n.4620_4623dup
XR_001738883.1:n.4634_4637dup
XR_001738884.1:n.4606_4609dup
NM_001165963.3:c.4184_4187dup	NP_001159435.1:p.Cys1396Ter
NM_001165964.3:c.4100_4103dup	NP_001159436.1:p.Cys1368Ter
NM_001202435.3:c.4184_4187dup	NP_001189364.1:p.Cys1396Ter
NM_001353948.2:c.4184_4187dup	NP_001340877.1:p.Cys1396Ter
NM_001353949.2:c.4151_4154dup	NP_001340878.1:p.Cys1385Ter
NM_001353950.2:c.4151_4154dup	NP_001340879.1:p.Cys1385Ter
NM_001353951.2:c.4151_4154dup	NP_001340880.1:p.Cys1385Ter
NM_001353952.2:c.4151_4154dup	NP_001340881.1:p.Cys1385Ter
NM_001353954.2:c.4148_4151dup	NP_001340883.1:p.Cys1384Ter
NM_001353955.2:c.4148_4151dup	NP_001340884.1:p.Cys1384Ter
NM_001353957.2:c.4100_4103dup	NP_001340886.1:p.Cys1368Ter
NM_001353958.2:c.4100_4103dup	NP_001340887.1:p.Cys1368Ter
NM_001353960.2:c.4097_4100dup	NP_001340889.1:p.Cys1367Ter
NM_001353961.2:c.1742_1745dup	NP_001340890.1:p.Cys582Ter
NM_006920.6:c.4151_4154dup	NP_008851.3:p.Cys1385Ter
NR_148667.2:n.4601_4604dup
NM_001165963.4:c.4184_4187dup MANE Select	NP_001159435.1:p.Cys1396Ter