Canonical Allele Identifier: CA2499215165

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 1174162
• ClinVar RCV Id: RCV001527710
• dbSNP Id: rs2105425236

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165991647_165991653del , CM000664.2:g.165991647_165991653del	GRCh38
NC_000002.11:g.166848157_166848163del , CM000664.1:g.166848157_166848163del	GRCh37
NC_000002.10:g.166556403_166556409del	NCBI36
NG_011906.1:g.86989_86995del , LRG_8:g.86989_86995del

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*3660_*3666del	ENSP00000509637.1:n.*3660_*3666del
ENST00000303395.9:c.5624_5630del	ENSP00000303540.4:p.Val1875GlufsTer?
ENST00000635750.1:c.5591_5597del	ENSP00000490799.1:p.Val1864GlufsTer?
ENST00000635776.1:c.*2457_*2463del	ENSP00000490692.1:n.*2457_*2463del
ENST00000636194.1:c.*3117_*3123del	ENSP00000490288.1:n.*3117_*3123del
ENST00000637038.1:c.2486_2492del
ENST00000637988.1:c.5591_5597del	ENSP00000490780.1:p.Val1864GlufsTer?
ENST00000640036.1:c.5591_5597del	ENSP00000491573.1:p.Val1864GlufsTer?
ENST00000641575.1:c.5588_5594del	ENSP00000492917.1:p.Val1863GlufsTer?
ENST00000641603.1:c.5342_5348del	ENSP00000492945.1:p.Val1781GlufsTer?
ENST00000641996.1:c.*5178_*5184del	ENSP00000493054.1:n.*5178_*5184del
ENST00000671940.1:c.*3567_*3573del	ENSP00000500336.1:n.*3567_*3573del
ENST00000673490.1:n.8097_8103del
ENST00000674923.1:c.5624_5630del MANE Select	ENSP00000501589.1:p.Val1875GlufsTer?
ENST00000303395.8:c.5624_5630del	ENSP00000303540.4:p.Val1875GlufsTer?
ENST00000375405.7:c.5591_5597del	ENSP00000364554.3:p.Val1864GlufsTer?
ENST00000409050.1:c.5540_5546del	ENSP00000386312.1:p.Val1847GlufsTer?
ENST00000423058.6:c.5624_5630del	ENSP00000407030.2:p.Val1875GlufsTer?
NM_001165963.1:c.5624_5630del	NP_001159435.1:p.Val1875GlufsTer?
NM_001165964.1:c.5540_5546del	NP_001159436.1:p.Val1847GlufsTer?
NM_001202435.1:c.5624_5630del	NP_001189364.1:p.Val1875GlufsTer?
NM_006920.4:c.5591_5597del , LRG_8t1:c.5591_5597del	NP_008851.3:p.Val1864GlufsTer?
NR_110598.1:n.176-23966_176-23960del
XM_011511598.1:c.5624_5630del	XP_011509900.1:p.Val1875GlufsTer?
XM_011511599.1:c.5624_5630del	XP_011509901.1:p.Val1875GlufsTer?
XM_011511600.1:c.5624_5630del	XP_011509902.1:p.Val1875GlufsTer?
XM_011511601.1:c.5624_5630del	XP_011509903.1:p.Val1875GlufsTer?
XM_011511602.1:c.5624_5630del	XP_011509904.1:p.Val1875GlufsTer?
XM_011511603.1:c.5621_5627del	XP_011509905.1:p.Val1874GlufsTer?
XM_011511604.1:c.5591_5597del	XP_011509906.1:p.Val1864GlufsTer?
XM_011511605.1:c.5588_5594del	XP_011509907.1:p.Val1863GlufsTer?
XM_011511606.1:c.5540_5546del	XP_011509908.1:p.Val1847GlufsTer?
XM_011511607.1:c.5342_5348del	XP_011509909.1:p.Val1781GlufsTer?
NM_001165963.2:c.5624_5630del	NP_001159435.1:p.Val1875GlufsTer?
NM_001165964.2:c.5540_5546del	NP_001159436.1:p.Val1847GlufsTer?
NM_001202435.2:c.5624_5630del	NP_001189364.1:p.Val1875GlufsTer?
NM_001353948.1:c.5624_5630del	NP_001340877.1:p.Val1875GlufsTer?
NM_001353949.1:c.5591_5597del	NP_001340878.1:p.Val1864GlufsTer?
NM_001353950.1:c.5591_5597del	NP_001340879.1:p.Val1864GlufsTer?
NM_001353951.1:c.5591_5597del	NP_001340880.1:p.Val1864GlufsTer?
NM_001353952.1:c.5591_5597del	NP_001340881.1:p.Val1864GlufsTer?
NM_001353954.1:c.5588_5594del	NP_001340883.1:p.Val1863GlufsTer?
NM_001353955.1:c.5588_5594del	NP_001340884.1:p.Val1863GlufsTer?
NM_001353957.1:c.5540_5546del	NP_001340886.1:p.Val1847GlufsTer?
NM_001353958.1:c.5540_5546del	NP_001340887.1:p.Val1847GlufsTer?
NM_001353960.1:c.5537_5543del	NP_001340889.1:p.Val1846GlufsTer?
NM_001353961.1:c.3182_3188del	NP_001340890.1:p.Val1061GlufsTer?
NM_006920.5:c.5591_5597del	NP_008851.3:p.Val1864GlufsTer?
NR_148667.1:n.6060_6066del
XR_001738883.1:n.6074_6080del
XR_001738884.1:n.6046_6052del
NM_001165963.3:c.5624_5630del	NP_001159435.1:p.Val1875GlufsTer?
NM_001165964.3:c.5540_5546del	NP_001159436.1:p.Val1847GlufsTer?
NM_001202435.3:c.5624_5630del	NP_001189364.1:p.Val1875GlufsTer?
NM_001353948.2:c.5624_5630del	NP_001340877.1:p.Val1875GlufsTer?
NM_001353949.2:c.5591_5597del	NP_001340878.1:p.Val1864GlufsTer?
NM_001353950.2:c.5591_5597del	NP_001340879.1:p.Val1864GlufsTer?
NM_001353951.2:c.5591_5597del	NP_001340880.1:p.Val1864GlufsTer?
NM_001353952.2:c.5591_5597del	NP_001340881.1:p.Val1864GlufsTer?
NM_001353954.2:c.5588_5594del	NP_001340883.1:p.Val1863GlufsTer?
NM_001353955.2:c.5588_5594del	NP_001340884.1:p.Val1863GlufsTer?
NM_001353957.2:c.5540_5546del	NP_001340886.1:p.Val1847GlufsTer?
NM_001353958.2:c.5540_5546del	NP_001340887.1:p.Val1847GlufsTer?
NM_001353960.2:c.5537_5543del	NP_001340889.1:p.Val1846GlufsTer?
NM_001353961.2:c.3182_3188del	NP_001340890.1:p.Val1061GlufsTer?
NM_006920.6:c.5591_5597del	NP_008851.3:p.Val1864GlufsTer?
NR_148667.2:n.6041_6047del
NM_001165963.4:c.5624_5630del MANE Select	NP_001159435.1:p.Val1875GlufsTer?