Canonical Allele Identifier: CA915942887

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 801800
• ClinVar RCV Id: RCV000986889
• dbSNP Id: rs1574069132

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166015623_166015626dup , CM000664.2:g.166015623_166015626dup	GRCh38
NC_000002.11:g.166872133_166872136dup , CM000664.1:g.166872133_166872136dup	GRCh37
NC_000002.10:g.166580379_166580382dup	NCBI36
NG_011906.1:g.63014_63017dup , LRG_8:g.63014_63017dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*1567_*1570dup	ENSP00000509637.1:n.*1567_*1570dup
ENST00000303395.9:c.3531_3534dup	ENSP00000303540.4:p.Ala1179ArgfsTer6
ENST00000635750.1:c.3498_3501dup	ENSP00000490799.1:p.Ala1168ArgfsTer6
ENST00000635776.1:c.3498_3501dup	ENSP00000490692.1:p.Ala1168ArgfsTer6
ENST00000636194.1:c.*1024_*1027dup	ENSP00000490288.1:n.*1024_*1027dup
ENST00000637038.1:c.329_332dup
ENST00000637968.1:n.3783_3786dup
ENST00000637988.1:c.3498_3501dup	ENSP00000490780.1:p.Ala1168ArgfsTer6
ENST00000640036.1:c.3498_3501dup	ENSP00000491573.1:p.Ala1168ArgfsTer6
ENST00000641575.1:c.3495_3498dup	ENSP00000492917.1:p.Ala1167ArgfsTer6
ENST00000641603.1:c.3531_3534dup	ENSP00000492945.1:p.Ala1179ArgfsTer6
ENST00000641996.1:c.*3085_*3088dup	ENSP00000493054.1:n.*3085_*3088dup
ENST00000671940.1:c.*1474_*1477dup	ENSP00000500336.1:n.*1474_*1477dup
ENST00000673490.1:n.6004_6007dup
ENST00000674923.1:c.3531_3534dup MANE Select	ENSP00000501589.1:p.Ala1179ArgfsTer6
ENST00000303395.8:c.3531_3534dup	ENSP00000303540.4:p.Ala1179ArgfsTer6
ENST00000375405.7:c.3498_3501dup	ENSP00000364554.3:p.Ala1168ArgfsTer6
ENST00000409050.1:c.3447_3450dup	ENSP00000386312.1:p.Ala1151ArgfsTer6
ENST00000423058.6:c.3531_3534dup	ENSP00000407030.2:p.Ala1179ArgfsTer6
NM_001165963.1:c.3531_3534dup	NP_001159435.1:p.Ala1179ArgfsTer6
NM_001165964.1:c.3447_3450dup	NP_001159436.1:p.Ala1151ArgfsTer6
NM_001202435.1:c.3531_3534dup	NP_001189364.1:p.Ala1179ArgfsTer6
NM_006920.4:c.3498_3501dup , LRG_8t1:c.3498_3501dup	NP_008851.3:p.Ala1168ArgfsTer6
NR_110598.1:n.186_189dup
XM_011511598.1:c.3531_3534dup	XP_011509900.1:p.Ala1179ArgfsTer6
XM_011511599.1:c.3531_3534dup	XP_011509901.1:p.Ala1179ArgfsTer6
XM_011511600.1:c.3531_3534dup	XP_011509902.1:p.Ala1179ArgfsTer6
XM_011511601.1:c.3531_3534dup	XP_011509903.1:p.Ala1179ArgfsTer6
XM_011511602.1:c.3531_3534dup	XP_011509904.1:p.Ala1179ArgfsTer6
XM_011511603.1:c.3528_3531dup	XP_011509905.1:p.Ala1178ArgfsTer6
XM_011511604.1:c.3498_3501dup	XP_011509906.1:p.Ala1168ArgfsTer6
XM_011511605.1:c.3495_3498dup	XP_011509907.1:p.Ala1167ArgfsTer6
XM_011511606.1:c.3447_3450dup	XP_011509908.1:p.Ala1151ArgfsTer6
XM_011511607.1:c.3531_3534dup	XP_011509909.1:p.Ala1179ArgfsTer6
XR_922981.1:n.3715_3718dup
NM_001165963.2:c.3531_3534dup	NP_001159435.1:p.Ala1179ArgfsTer6
NM_001165964.2:c.3447_3450dup	NP_001159436.1:p.Ala1151ArgfsTer6
NM_001202435.2:c.3531_3534dup	NP_001189364.1:p.Ala1179ArgfsTer6
NM_001353948.1:c.3531_3534dup	NP_001340877.1:p.Ala1179ArgfsTer6
NM_001353949.1:c.3498_3501dup	NP_001340878.1:p.Ala1168ArgfsTer6
NM_001353950.1:c.3498_3501dup	NP_001340879.1:p.Ala1168ArgfsTer6
NM_001353951.1:c.3498_3501dup	NP_001340880.1:p.Ala1168ArgfsTer6
NM_001353952.1:c.3498_3501dup	NP_001340881.1:p.Ala1168ArgfsTer6
NM_001353954.1:c.3495_3498dup	NP_001340883.1:p.Ala1167ArgfsTer6
NM_001353955.1:c.3495_3498dup	NP_001340884.1:p.Ala1167ArgfsTer6
NM_001353957.1:c.3447_3450dup	NP_001340886.1:p.Ala1151ArgfsTer6
NM_001353958.1:c.3447_3450dup	NP_001340887.1:p.Ala1151ArgfsTer6
NM_001353960.1:c.3444_3447dup	NP_001340889.1:p.Ala1150ArgfsTer6
NM_001353961.1:c.1089_1092dup	NP_001340890.1:p.Ala365ArgfsTer6
NM_006920.5:c.3498_3501dup	NP_008851.3:p.Ala1168ArgfsTer6
NR_148667.1:n.3903_3906dup
XR_001738883.1:n.3917_3920dup
XR_001738884.1:n.3889_3892dup
NM_001165963.3:c.3531_3534dup	NP_001159435.1:p.Ala1179ArgfsTer6
NM_001165964.3:c.3447_3450dup	NP_001159436.1:p.Ala1151ArgfsTer6
NM_001202435.3:c.3531_3534dup	NP_001189364.1:p.Ala1179ArgfsTer6
NM_001353948.2:c.3531_3534dup	NP_001340877.1:p.Ala1179ArgfsTer6
NM_001353949.2:c.3498_3501dup	NP_001340878.1:p.Ala1168ArgfsTer6
NM_001353950.2:c.3498_3501dup	NP_001340879.1:p.Ala1168ArgfsTer6
NM_001353951.2:c.3498_3501dup	NP_001340880.1:p.Ala1168ArgfsTer6
NM_001353952.2:c.3498_3501dup	NP_001340881.1:p.Ala1168ArgfsTer6
NM_001353954.2:c.3495_3498dup	NP_001340883.1:p.Ala1167ArgfsTer6
NM_001353955.2:c.3495_3498dup	NP_001340884.1:p.Ala1167ArgfsTer6
NM_001353957.2:c.3447_3450dup	NP_001340886.1:p.Ala1151ArgfsTer6
NM_001353958.2:c.3447_3450dup	NP_001340887.1:p.Ala1151ArgfsTer6
NM_001353960.2:c.3444_3447dup	NP_001340889.1:p.Ala1150ArgfsTer6
NM_001353961.2:c.1089_1092dup	NP_001340890.1:p.Ala365ArgfsTer6
NM_006920.6:c.3498_3501dup	NP_008851.3:p.Ala1168ArgfsTer6
NR_148667.2:n.3884_3887dup
NM_001165963.4:c.3531_3534dup MANE Select	NP_001159435.1:p.Ala1179ArgfsTer6