Canonical Allele Identifier: CA145253

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 68557
• ClinVar RCV Id: RCV000059431 ; RCV000176634 ; RCV000463147 ; RCV000623263 ; RCV002281560 ; RCV003448258
• dbSNP Id: rs121917995
• MyVariant Identifiers: chr2:g.166848878C>T (hg19) ; chr2:g.165992368C>T (hg38)
• PubMed: PMID:9126059 ; PMID:10742094 ; PMID:11359211 ; PMID:15508915 ; PMID:15880351 ; PMID:16430863 ; PMID:17347258 ; PMID:17561957 ; PMID:18413471 ; PMID:18930999 ; PMID:19400878 ; PMID:20879882 ; PMID:21248271 ; PMID:21269283 ; PMID:21463290 ; PMID:22409937 ; PMID:22719002 ; PMID:23891399 ; PMID:24097157 ; PMID:24836964

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165992368C>T , CM000664.2:g.165992368C>T	GRCh38
NC_000002.11:g.166848878C>T , CM000664.1:g.166848878C>T	GRCh37
NC_000002.10:g.166557124C>T	NCBI36
NG_011906.1:g.86272G>A , LRG_8:g.86272G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*2943G>A	ENSP00000509637.1:n.*2943G>A
ENST00000303395.9:c.4907G>A	ENSP00000303540.4:p.Arg1636Gln
ENST00000635750.1:c.4874G>A	ENSP00000490799.1:p.Arg1625Gln
ENST00000635776.1:c.*1740G>A	ENSP00000490692.1:n.*1740G>A
ENST00000636194.1:c.*2400G>A	ENSP00000490288.1:n.*2400G>A
ENST00000637038.1:c.1769G>A
ENST00000637988.1:c.4874G>A	ENSP00000490780.1:p.Arg1625Gln
ENST00000640036.1:c.4874G>A	ENSP00000491573.1:p.Arg1625Gln
ENST00000641575.1:c.4871G>A	ENSP00000492917.1:p.Arg1624Gln
ENST00000641603.1:c.4625G>A	ENSP00000492945.1:p.Arg1542Gln
ENST00000641996.1:c.*4461G>A	ENSP00000493054.1:n.*4461G>A
ENST00000671940.1:c.*2850G>A	ENSP00000500336.1:n.*2850G>A
ENST00000673490.1:n.7380G>A
ENST00000674923.1:c.4907G>A MANE Select	ENSP00000501589.1:p.Arg1636Gln
ENST00000303395.8:c.4907G>A	ENSP00000303540.4:p.Arg1636Gln
ENST00000375405.7:c.4874G>A	ENSP00000364554.3:p.Arg1625Gln
ENST00000409050.1:c.4823G>A	ENSP00000386312.1:p.Arg1608Gln
ENST00000423058.6:c.4907G>A	ENSP00000407030.2:p.Arg1636Gln
NM_001165963.1:c.4907G>A	NP_001159435.1:p.Arg1636Gln
NM_001165964.1:c.4823G>A	NP_001159436.1:p.Arg1608Gln
NM_001202435.1:c.4907G>A	NP_001189364.1:p.Arg1636Gln
NM_006920.4:c.4874G>A , LRG_8t1:c.4874G>A	NP_008851.3:p.Arg1625Gln
NR_110598.1:n.176-23245C>T
XM_011511598.1:c.4907G>A	XP_011509900.1:p.Arg1636Gln
XM_011511599.1:c.4907G>A	XP_011509901.1:p.Arg1636Gln
XM_011511600.1:c.4907G>A	XP_011509902.1:p.Arg1636Gln
XM_011511601.1:c.4907G>A	XP_011509903.1:p.Arg1636Gln
XM_011511602.1:c.4907G>A	XP_011509904.1:p.Arg1636Gln
XM_011511603.1:c.4904G>A	XP_011509905.1:p.Arg1635Gln
XM_011511604.1:c.4874G>A	XP_011509906.1:p.Arg1625Gln
XM_011511605.1:c.4871G>A	XP_011509907.1:p.Arg1624Gln
XM_011511606.1:c.4823G>A	XP_011509908.1:p.Arg1608Gln
XM_011511607.1:c.4625G>A	XP_011509909.1:p.Arg1542Gln
NM_001165963.2:c.4907G>A	NP_001159435.1:p.Arg1636Gln
NM_001165964.2:c.4823G>A	NP_001159436.1:p.Arg1608Gln
NM_001202435.2:c.4907G>A	NP_001189364.1:p.Arg1636Gln
NM_001353948.1:c.4907G>A	NP_001340877.1:p.Arg1636Gln
NM_001353949.1:c.4874G>A	NP_001340878.1:p.Arg1625Gln
NM_001353950.1:c.4874G>A	NP_001340879.1:p.Arg1625Gln
NM_001353951.1:c.4874G>A	NP_001340880.1:p.Arg1625Gln
NM_001353952.1:c.4874G>A	NP_001340881.1:p.Arg1625Gln
NM_001353954.1:c.4871G>A	NP_001340883.1:p.Arg1624Gln
NM_001353955.1:c.4871G>A	NP_001340884.1:p.Arg1624Gln
NM_001353957.1:c.4823G>A	NP_001340886.1:p.Arg1608Gln
NM_001353958.1:c.4823G>A	NP_001340887.1:p.Arg1608Gln
NM_001353960.1:c.4820G>A	NP_001340889.1:p.Arg1607Gln
NM_001353961.1:c.2465G>A	NP_001340890.1:p.Arg822Gln
NM_006920.5:c.4874G>A	NP_008851.3:p.Arg1625Gln
NR_148667.1:n.5343G>A
XR_001738883.1:n.5357G>A
XR_001738884.1:n.5329G>A
NM_001165963.3:c.4907G>A	NP_001159435.1:p.Arg1636Gln
NM_001165964.3:c.4823G>A	NP_001159436.1:p.Arg1608Gln
NM_001202435.3:c.4907G>A	NP_001189364.1:p.Arg1636Gln
NM_001353948.2:c.4907G>A	NP_001340877.1:p.Arg1636Gln
NM_001353949.2:c.4874G>A	NP_001340878.1:p.Arg1625Gln
NM_001353950.2:c.4874G>A	NP_001340879.1:p.Arg1625Gln
NM_001353951.2:c.4874G>A	NP_001340880.1:p.Arg1625Gln
NM_001353952.2:c.4874G>A	NP_001340881.1:p.Arg1625Gln
NM_001353954.2:c.4871G>A	NP_001340883.1:p.Arg1624Gln
NM_001353955.2:c.4871G>A	NP_001340884.1:p.Arg1624Gln
NM_001353957.2:c.4823G>A	NP_001340886.1:p.Arg1608Gln
NM_001353958.2:c.4823G>A	NP_001340887.1:p.Arg1608Gln
NM_001353960.2:c.4820G>A	NP_001340889.1:p.Arg1607Gln
NM_001353961.2:c.2465G>A	NP_001340890.1:p.Arg822Gln
NM_006920.6:c.4874G>A	NP_008851.3:p.Arg1625Gln
NR_148667.2:n.5324G>A
NM_001165963.4:c.4907G>A MANE Select	NP_001159435.1:p.Arg1636Gln