Canonical Allele Identifier: CA1942622

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 449138
• ClinVar RCV Id: RCV000518972 ; RCV001340972
• dbSNP Id: rs769477807
• ExAC: 2:166847822 C / T
• gnomAD v2: 2-166847822-C-T
• gnomAD v3: 2-165991312-C-T
• gnomAD v4: 2-165991312-C-T
• MyVariant Identifiers: chr2:g.166847822C>T (hg19) ; chr2:g.165991312C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165991312C>T , CM000664.2:g.165991312C>T	GRCh38
NC_000002.11:g.166847822C>T , CM000664.1:g.166847822C>T	GRCh37
NC_000002.10:g.166556068C>T	NCBI36
NG_011906.1:g.87328G>A , LRG_8:g.87328G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*3999G>A	ENSP00000509637.1:n.*3999G>A
ENST00000303395.9:c.5963G>A	ENSP00000303540.4:p.Arg1988Gln
ENST00000635750.1:c.5930G>A	ENSP00000490799.1:p.Arg1977Gln
ENST00000635776.1:c.*2796G>A	ENSP00000490692.1:n.*2796G>A
ENST00000636194.1:c.*3456G>A	ENSP00000490288.1:n.*3456G>A
ENST00000637038.1:c.2825G>A
ENST00000637988.1:c.5930G>A	ENSP00000490780.1:p.Arg1977Gln
ENST00000640036.1:c.5930G>A	ENSP00000491573.1:p.Arg1977Gln
ENST00000641575.1:c.5927G>A	ENSP00000492917.1:p.Arg1976Gln
ENST00000641603.1:c.5681G>A	ENSP00000492945.1:p.Arg1894Gln
ENST00000641996.1:c.*5517G>A	ENSP00000493054.1:n.*5517G>A
ENST00000671940.1:c.*3906G>A	ENSP00000500336.1:n.*3906G>A
ENST00000673490.1:n.8436G>A
ENST00000674923.1:c.5963G>A MANE Select	ENSP00000501589.1:p.Arg1988Gln
ENST00000303395.8:c.5963G>A	ENSP00000303540.4:p.Arg1988Gln
ENST00000375405.7:c.5930G>A	ENSP00000364554.3:p.Arg1977Gln
ENST00000409050.1:c.5879G>A	ENSP00000386312.1:p.Arg1960Gln
ENST00000423058.6:c.5963G>A	ENSP00000407030.2:p.Arg1988Gln
NM_001165963.1:c.5963G>A	NP_001159435.1:p.Arg1988Gln
NM_001165964.1:c.5879G>A	NP_001159436.1:p.Arg1960Gln
NM_001202435.1:c.5963G>A	NP_001189364.1:p.Arg1988Gln
NM_006920.4:c.5930G>A , LRG_8t1:c.5930G>A	NP_008851.3:p.Arg1977Gln
NR_110598.1:n.176-24301C>T
XM_011511598.1:c.5963G>A	XP_011509900.1:p.Arg1988Gln
XM_011511599.1:c.5963G>A	XP_011509901.1:p.Arg1988Gln
XM_011511600.1:c.5963G>A	XP_011509902.1:p.Arg1988Gln
XM_011511601.1:c.5963G>A	XP_011509903.1:p.Arg1988Gln
XM_011511602.1:c.5963G>A	XP_011509904.1:p.Arg1988Gln
XM_011511603.1:c.5960G>A	XP_011509905.1:p.Arg1987Gln
XM_011511604.1:c.5930G>A	XP_011509906.1:p.Arg1977Gln
XM_011511605.1:c.5927G>A	XP_011509907.1:p.Arg1976Gln
XM_011511606.1:c.5879G>A	XP_011509908.1:p.Arg1960Gln
XM_011511607.1:c.5681G>A	XP_011509909.1:p.Arg1894Gln
NM_001165963.2:c.5963G>A	NP_001159435.1:p.Arg1988Gln
NM_001165964.2:c.5879G>A	NP_001159436.1:p.Arg1960Gln
NM_001202435.2:c.5963G>A	NP_001189364.1:p.Arg1988Gln
NM_001353948.1:c.5963G>A	NP_001340877.1:p.Arg1988Gln
NM_001353949.1:c.5930G>A	NP_001340878.1:p.Arg1977Gln
NM_001353950.1:c.5930G>A	NP_001340879.1:p.Arg1977Gln
NM_001353951.1:c.5930G>A	NP_001340880.1:p.Arg1977Gln
NM_001353952.1:c.5930G>A	NP_001340881.1:p.Arg1977Gln
NM_001353954.1:c.5927G>A	NP_001340883.1:p.Arg1976Gln
NM_001353955.1:c.5927G>A	NP_001340884.1:p.Arg1976Gln
NM_001353957.1:c.5879G>A	NP_001340886.1:p.Arg1960Gln
NM_001353958.1:c.5879G>A	NP_001340887.1:p.Arg1960Gln
NM_001353960.1:c.5876G>A	NP_001340889.1:p.Arg1959Gln
NM_001353961.1:c.3521G>A	NP_001340890.1:p.Arg1174Gln
NM_006920.5:c.5930G>A	NP_008851.3:p.Arg1977Gln
NR_148667.1:n.6399G>A
XR_001738883.1:n.6413G>A
XR_001738884.1:n.6385G>A
NM_001165963.3:c.5963G>A	NP_001159435.1:p.Arg1988Gln
NM_001165964.3:c.5879G>A	NP_001159436.1:p.Arg1960Gln
NM_001202435.3:c.5963G>A	NP_001189364.1:p.Arg1988Gln
NM_001353948.2:c.5963G>A	NP_001340877.1:p.Arg1988Gln
NM_001353949.2:c.5930G>A	NP_001340878.1:p.Arg1977Gln
NM_001353950.2:c.5930G>A	NP_001340879.1:p.Arg1977Gln
NM_001353951.2:c.5930G>A	NP_001340880.1:p.Arg1977Gln
NM_001353952.2:c.5930G>A	NP_001340881.1:p.Arg1977Gln
NM_001353954.2:c.5927G>A	NP_001340883.1:p.Arg1976Gln
NM_001353955.2:c.5927G>A	NP_001340884.1:p.Arg1976Gln
NM_001353957.2:c.5879G>A	NP_001340886.1:p.Arg1960Gln
NM_001353958.2:c.5879G>A	NP_001340887.1:p.Arg1960Gln
NM_001353960.2:c.5876G>A	NP_001340889.1:p.Arg1959Gln
NM_001353961.2:c.3521G>A	NP_001340890.1:p.Arg1174Gln
NM_006920.6:c.5930G>A	NP_008851.3:p.Arg1977Gln
NR_148667.2:n.6380G>A
NM_001165963.4:c.5963G>A MANE Select	NP_001159435.1:p.Arg1988Gln