Canonical Allele Identifier: CA1304847350

Gene: SCN1A

Linked Data

• dbSNP Id: rs1692190950

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166009857dup , CM000664.2:g.166009857dup	GRCh38
NC_000002.11:g.166866367dup , CM000664.1:g.166866367dup	GRCh37
NC_000002.10:g.166574613dup	NCBI36
NG_011906.1:g.68783dup , LRG_8:g.68783dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*1916-16dup	ENSP00000509637.1:n.*1916-16dup
ENST00000303395.9:c.3880-16dup	ENSP00000303540.4:n.3880-16dup
ENST00000635750.1:c.3847-16dup	ENSP00000490799.1:n.3847-16dup
ENST00000635776.1:c.3847-16dup	ENSP00000490692.1:n.3847-16dup
ENST00000636194.1:c.*1373-16dup	ENSP00000490288.1:n.*1373-16dup
ENST00000637038.1:c.678-16dup
ENST00000637968.1:n.4132-16dup
ENST00000637988.1:c.3847-16dup	ENSP00000490780.1:n.3847-16dup
ENST00000640036.1:c.3847-16dup	ENSP00000491573.1:n.3847-16dup
ENST00000641575.1:c.3844-16dup	ENSP00000492917.1:n.3844-16dup
ENST00000641603.1:c.3880-16dup	ENSP00000492945.1:n.3880-16dup
ENST00000641996.1:c.*3434-16dup	ENSP00000493054.1:n.*3434-16dup
ENST00000671940.1:c.*1823-16dup	ENSP00000500336.1:n.*1823-16dup
ENST00000673490.1:n.6353-16dup
ENST00000674923.1:c.3880-16dup MANE Select	ENSP00000501589.1:n.3880-16dup
ENST00000303395.8:c.3880-16dup	ENSP00000303540.4:n.3880-16dup
ENST00000375405.7:c.3847-16dup	ENSP00000364554.3:n.3847-16dup
ENST00000409050.1:c.3796-16dup	ENSP00000386312.1:n.3796-16dup
ENST00000423058.6:c.3880-16dup	ENSP00000407030.2:n.3880-16dup
NM_001165963.1:c.3880-16dup	NP_001159435.1:n.3880-16dup
NM_001165964.1:c.3796-16dup	NP_001159436.1:n.3796-16dup
NM_001202435.1:c.3880-16dup	NP_001189364.1:n.3880-16dup
NM_006920.4:c.3847-16dup , LRG_8t1:c.3847-16dup	NP_008851.3:n.3847-16dup
NR_110598.1:n.176-5756dup
XM_011511598.1:c.3880-16dup	XP_011509900.1:n.3880-16dup
XM_011511599.1:c.3880-16dup	XP_011509901.1:n.3880-16dup
XM_011511600.1:c.3880-16dup	XP_011509902.1:n.3880-16dup
XM_011511601.1:c.3880-16dup	XP_011509903.1:n.3880-16dup
XM_011511602.1:c.3880-16dup	XP_011509904.1:n.3880-16dup
XM_011511603.1:c.3877-16dup	XP_011509905.1:n.3877-16dup
XM_011511604.1:c.3847-16dup	XP_011509906.1:n.3847-16dup
XM_011511605.1:c.3844-16dup	XP_011509907.1:n.3844-16dup
XM_011511606.1:c.3796-16dup	XP_011509908.1:n.3796-16dup
XM_011511607.1:c.3880-16dup	XP_011509909.1:n.3880-16dup
XR_922981.1:n.4064-16dup
NM_001165963.2:c.3880-16dup	NP_001159435.1:n.3880-16dup
NM_001165964.2:c.3796-16dup	NP_001159436.1:n.3796-16dup
NM_001202435.2:c.3880-16dup	NP_001189364.1:n.3880-16dup
NM_001353948.1:c.3880-16dup	NP_001340877.1:n.3880-16dup
NM_001353949.1:c.3847-16dup	NP_001340878.1:n.3847-16dup
NM_001353950.1:c.3847-16dup	NP_001340879.1:n.3847-16dup
NM_001353951.1:c.3847-16dup	NP_001340880.1:n.3847-16dup
NM_001353952.1:c.3847-16dup	NP_001340881.1:n.3847-16dup
NM_001353954.1:c.3844-16dup	NP_001340883.1:n.3844-16dup
NM_001353955.1:c.3844-16dup	NP_001340884.1:n.3844-16dup
NM_001353957.1:c.3796-16dup	NP_001340886.1:n.3796-16dup
NM_001353958.1:c.3796-16dup	NP_001340887.1:n.3796-16dup
NM_001353960.1:c.3793-16dup	NP_001340889.1:n.3793-16dup
NM_001353961.1:c.1438-16dup	NP_001340890.1:n.1438-16dup
NM_006920.5:c.3847-16dup	NP_008851.3:n.3847-16dup
NR_148667.1:n.4252-16dup
XR_001738883.1:n.4266-16dup
XR_001738884.1:n.4238-16dup
NM_001165963.3:c.3880-16dup	NP_001159435.1:n.3880-16dup
NM_001165964.3:c.3796-16dup	NP_001159436.1:n.3796-16dup
NM_001202435.3:c.3880-16dup	NP_001189364.1:n.3880-16dup
NM_001353948.2:c.3880-16dup	NP_001340877.1:n.3880-16dup
NM_001353949.2:c.3847-16dup	NP_001340878.1:n.3847-16dup
NM_001353950.2:c.3847-16dup	NP_001340879.1:n.3847-16dup
NM_001353951.2:c.3847-16dup	NP_001340880.1:n.3847-16dup
NM_001353952.2:c.3847-16dup	NP_001340881.1:n.3847-16dup
NM_001353954.2:c.3844-16dup	NP_001340883.1:n.3844-16dup
NM_001353955.2:c.3844-16dup	NP_001340884.1:n.3844-16dup
NM_001353957.2:c.3796-16dup	NP_001340886.1:n.3796-16dup
NM_001353958.2:c.3796-16dup	NP_001340887.1:n.3796-16dup
NM_001353960.2:c.3793-16dup	NP_001340889.1:n.3793-16dup
NM_001353961.2:c.1438-16dup	NP_001340890.1:n.1438-16dup
NM_006920.6:c.3847-16dup	NP_008851.3:n.3847-16dup
NR_148667.2:n.4233-16dup
NM_001165963.4:c.3880-16dup MANE Select	NP_001159435.1:n.3880-16dup