Canonical Allele Identifier: CA349060197

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 1983189
• ClinVar RCV Id: RCV002770127
• dbSNP Id: rs1299891871
• gnomAD v3: 2-166036419-G-C
• gnomAD v4: 2-166036419-G-C
• MyVariant Identifiers: chr2:g.166892929G>C (hg19) ; chr2:g.166036419G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166036419G>C , CM000664.2:g.166036419G>C	GRCh38
NC_000002.11:g.166892929G>C , CM000664.1:g.166892929G>C	GRCh37
NC_000002.10:g.166601175G>C	NCBI36
NG_011906.1:g.42221C>G , LRG_8:g.42221C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*1094C>G	ENSP00000509637.1:n.*1094C>G
ENST00000303395.9:c.3058C>G	ENSP00000303540.4:p.His1020Asp
ENST00000635750.1:c.3025C>G	ENSP00000490799.1:p.His1009Asp
ENST00000635776.1:c.3025C>G	ENSP00000490692.1:p.His1009Asp
ENST00000636194.1:c.*551C>G	ENSP00000490288.1:n.*551C>G
ENST00000637968.1:n.3310C>G
ENST00000637988.1:c.3025C>G	ENSP00000490780.1:p.His1009Asp
ENST00000640036.1:c.3025C>G	ENSP00000491573.1:p.His1009Asp
ENST00000641575.1:c.3022C>G	ENSP00000492917.1:p.His1008Asp
ENST00000641603.1:c.3058C>G	ENSP00000492945.1:p.His1020Asp
ENST00000641996.1:c.*2612C>G	ENSP00000493054.1:n.*2612C>G
ENST00000671940.1:c.*1001C>G	ENSP00000500336.1:n.*1001C>G
ENST00000673490.1:n.5531C>G
ENST00000674923.1:c.3058C>G MANE Select	ENSP00000501589.1:p.His1020Asp
ENST00000303395.8:c.3058C>G	ENSP00000303540.4:p.His1020Asp
ENST00000375405.7:c.3025C>G	ENSP00000364554.3:p.His1009Asp
ENST00000409050.1:c.2974C>G	ENSP00000386312.1:p.His992Asp
ENST00000423058.6:c.3058C>G	ENSP00000407030.2:p.His1020Asp
NM_001165963.1:c.3058C>G	NP_001159435.1:p.His1020Asp
NM_001165964.1:c.2974C>G	NP_001159436.1:p.His992Asp
NM_001202435.1:c.3058C>G	NP_001189364.1:p.His1020Asp
NM_006920.4:c.3025C>G , LRG_8t1:c.3025C>G	NP_008851.3:p.His1009Asp
XM_011511598.1:c.3058C>G	XP_011509900.1:p.His1020Asp
XM_011511599.1:c.3058C>G	XP_011509901.1:p.His1020Asp
XM_011511600.1:c.3058C>G	XP_011509902.1:p.His1020Asp
XM_011511601.1:c.3058C>G	XP_011509903.1:p.His1020Asp
XM_011511602.1:c.3058C>G	XP_011509904.1:p.His1020Asp
XM_011511603.1:c.3055C>G	XP_011509905.1:p.His1019Asp
XM_011511604.1:c.3025C>G	XP_011509906.1:p.His1009Asp
XM_011511605.1:c.3022C>G	XP_011509907.1:p.His1008Asp
XM_011511606.1:c.2974C>G	XP_011509908.1:p.His992Asp
XM_011511607.1:c.3058C>G	XP_011509909.1:p.His1020Asp
XR_922981.1:n.3242C>G
NM_001165963.2:c.3058C>G	NP_001159435.1:p.His1020Asp
NM_001165964.2:c.2974C>G	NP_001159436.1:p.His992Asp
NM_001202435.2:c.3058C>G	NP_001189364.1:p.His1020Asp
NM_001353948.1:c.3058C>G	NP_001340877.1:p.His1020Asp
NM_001353949.1:c.3025C>G	NP_001340878.1:p.His1009Asp
NM_001353950.1:c.3025C>G	NP_001340879.1:p.His1009Asp
NM_001353951.1:c.3025C>G	NP_001340880.1:p.His1009Asp
NM_001353952.1:c.3025C>G	NP_001340881.1:p.His1009Asp
NM_001353954.1:c.3022C>G	NP_001340883.1:p.His1008Asp
NM_001353955.1:c.3022C>G	NP_001340884.1:p.His1008Asp
NM_001353957.1:c.2974C>G	NP_001340886.1:p.His992Asp
NM_001353958.1:c.2974C>G	NP_001340887.1:p.His992Asp
NM_001353960.1:c.2971C>G	NP_001340889.1:p.His991Asp
NM_001353961.1:c.616C>G	NP_001340890.1:p.His206Asp
NM_006920.5:c.3025C>G	NP_008851.3:p.His1009Asp
NR_148667.1:n.3430C>G
XR_001738883.1:n.3444C>G
XR_001738884.1:n.3416C>G
NM_001165963.3:c.3058C>G	NP_001159435.1:p.His1020Asp
NM_001165964.3:c.2974C>G	NP_001159436.1:p.His992Asp
NM_001202435.3:c.3058C>G	NP_001189364.1:p.His1020Asp
NM_001353948.2:c.3058C>G	NP_001340877.1:p.His1020Asp
NM_001353949.2:c.3025C>G	NP_001340878.1:p.His1009Asp
NM_001353950.2:c.3025C>G	NP_001340879.1:p.His1009Asp
NM_001353951.2:c.3025C>G	NP_001340880.1:p.His1009Asp
NM_001353952.2:c.3025C>G	NP_001340881.1:p.His1009Asp
NM_001353954.2:c.3022C>G	NP_001340883.1:p.His1008Asp
NM_001353955.2:c.3022C>G	NP_001340884.1:p.His1008Asp
NM_001353957.2:c.2974C>G	NP_001340886.1:p.His992Asp
NM_001353958.2:c.2974C>G	NP_001340887.1:p.His992Asp
NM_001353960.2:c.2971C>G	NP_001340889.1:p.His991Asp
NM_001353961.2:c.616C>G	NP_001340890.1:p.His206Asp
NM_006920.6:c.3025C>G	NP_008851.3:p.His1009Asp
NR_148667.2:n.3411C>G
NM_001165963.4:c.3058C>G MANE Select	NP_001159435.1:p.His1020Asp