Canonical Allele Identifier: CA1304842611

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166002560A= , CM000664.2:g.166002560A=	GRCh38
NC_000002.11:g.166859070A= , CM000664.1:g.166859070A=	GRCh37
NC_000002.10:g.166567316A=	NCBI36
NG_011906.1:g.76080T= , LRG_8:g.76080T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*2232T=	ENSP00000509637.1:n.*2232T=
ENST00000303395.9:c.4196T=	ENSP00000303540.4:p.Leu1399=
ENST00000635750.1:c.4163T=	ENSP00000490799.1:p.Leu1388=
ENST00000635776.1:c.4163T=	ENSP00000490692.1:p.Leu1388=
ENST00000636194.1:c.*1689T=	ENSP00000490288.1:n.*1689T=
ENST00000637038.1:c.1058T=
ENST00000637988.1:c.4163T=	ENSP00000490780.1:p.Leu1388=
ENST00000640036.1:c.4163T=	ENSP00000491573.1:p.Leu1388=
ENST00000641575.1:c.4160T=	ENSP00000492917.1:p.Leu1387=
ENST00000641603.1:c.4003-2784T=	ENSP00000492945.1:n.4003-2784T=
ENST00000641996.1:c.*3750T=	ENSP00000493054.1:n.*3750T=
ENST00000671940.1:c.*2139T=	ENSP00000500336.1:n.*2139T=
ENST00000673490.1:n.6669T=
ENST00000674923.1:c.4196T= MANE Select	ENSP00000501589.1:p.Leu1399=
ENST00000303395.8:c.4196T=	ENSP00000303540.4:p.Leu1399=
ENST00000375405.7:c.4163T=	ENSP00000364554.3:p.Leu1388=
ENST00000409050.1:c.4112T=	ENSP00000386312.1:p.Leu1371=
ENST00000423058.6:c.4196T=	ENSP00000407030.2:p.Leu1399=
ENST00000491429.1:n.349T=
NM_001165963.1:c.4196T=	NP_001159435.1:p.Leu1399=
NM_001165964.1:c.4112T=	NP_001159436.1:p.Leu1371=
NM_001202435.1:c.4196T=	NP_001189364.1:p.Leu1399=
NM_006920.4:c.4163T= , LRG_8t1:c.4163T=	NP_008851.3:p.Leu1388=
NR_110598.1:n.176-13053A=
XM_011511598.1:c.4196T=	XP_011509900.1:p.Leu1399=
XM_011511599.1:c.4196T=	XP_011509901.1:p.Leu1399=
XM_011511600.1:c.4196T=	XP_011509902.1:p.Leu1399=
XM_011511601.1:c.4196T=	XP_011509903.1:p.Leu1399=
XM_011511602.1:c.4196T=	XP_011509904.1:p.Leu1399=
XM_011511603.1:c.4193T=	XP_011509905.1:p.Leu1398=
XM_011511604.1:c.4163T=	XP_011509906.1:p.Leu1388=
XM_011511605.1:c.4160T=	XP_011509907.1:p.Leu1387=
XM_011511606.1:c.4112T=	XP_011509908.1:p.Leu1371=
XM_011511607.1:c.4003-2784T=	XP_011509909.1:n.4003-2784T=
XR_922981.1:n.4444T=
NM_001165963.2:c.4196T=	NP_001159435.1:p.Leu1399=
NM_001165964.2:c.4112T=	NP_001159436.1:p.Leu1371=
NM_001202435.2:c.4196T=	NP_001189364.1:p.Leu1399=
NM_001353948.1:c.4196T=	NP_001340877.1:p.Leu1399=
NM_001353949.1:c.4163T=	NP_001340878.1:p.Leu1388=
NM_001353950.1:c.4163T=	NP_001340879.1:p.Leu1388=
NM_001353951.1:c.4163T=	NP_001340880.1:p.Leu1388=
NM_001353952.1:c.4163T=	NP_001340881.1:p.Leu1388=
NM_001353954.1:c.4160T=	NP_001340883.1:p.Leu1387=
NM_001353955.1:c.4160T=	NP_001340884.1:p.Leu1387=
NM_001353957.1:c.4112T=	NP_001340886.1:p.Leu1371=
NM_001353958.1:c.4112T=	NP_001340887.1:p.Leu1371=
NM_001353960.1:c.4109T=	NP_001340889.1:p.Leu1370=
NM_001353961.1:c.1754T=	NP_001340890.1:p.Leu585=
NM_006920.5:c.4163T=	NP_008851.3:p.Leu1388=
NR_148667.1:n.4632T=
XR_001738883.1:n.4646T=
XR_001738884.1:n.4618T=
NM_001165963.3:c.4196T=	NP_001159435.1:p.Leu1399=
NM_001165964.3:c.4112T=	NP_001159436.1:p.Leu1371=
NM_001202435.3:c.4196T=	NP_001189364.1:p.Leu1399=
NM_001353948.2:c.4196T=	NP_001340877.1:p.Leu1399=
NM_001353949.2:c.4163T=	NP_001340878.1:p.Leu1388=
NM_001353950.2:c.4163T=	NP_001340879.1:p.Leu1388=
NM_001353951.2:c.4163T=	NP_001340880.1:p.Leu1388=
NM_001353952.2:c.4163T=	NP_001340881.1:p.Leu1388=
NM_001353954.2:c.4160T=	NP_001340883.1:p.Leu1387=
NM_001353955.2:c.4160T=	NP_001340884.1:p.Leu1387=
NM_001353957.2:c.4112T=	NP_001340886.1:p.Leu1371=
NM_001353958.2:c.4112T=	NP_001340887.1:p.Leu1371=
NM_001353960.2:c.4109T=	NP_001340889.1:p.Leu1370=
NM_001353961.2:c.1754T=	NP_001340890.1:p.Leu585=
NM_006920.6:c.4163T=	NP_008851.3:p.Leu1388=
NR_148667.2:n.4613T=
NM_001165963.4:c.4196T= MANE Select	NP_001159435.1:p.Leu1399=