Canonical Allele Identifier: CA145253
Gene: SCN1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 68557
dbSNP Id: rs121917995

User contributed link-outs

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
NM_001165963.1:c.4907G>A VV NP_001159435.1:p.Arg1636Gln
NM_001165964.1:c.4823G>A VV NP_001159436.1:p.Arg1608Gln
NM_001202435.1:c.4907G>A VV 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 VV NP_001159435.1:p.Arg1636Gln
NM_001165964.2:c.4823G>A VV NP_001159436.1:p.Arg1608Gln
NM_001202435.2:c.4907G>A VV NP_001189364.1:p.Arg1636Gln
NM_001353948.1:c.4907G>A VV NP_001340877.1:p.Arg1636Gln
NM_001353949.1:c.4874G>A VV NP_001340878.1:p.Arg1625Gln
NM_001353950.1:c.4874G>A VV NP_001340879.1:p.Arg1625Gln
NM_001353951.1:c.4874G>A VV NP_001340880.1:p.Arg1625Gln
NM_001353952.1:c.4874G>A VV NP_001340881.1:p.Arg1625Gln
NM_001353954.1:c.4871G>A VV NP_001340883.1:p.Arg1624Gln
NM_001353955.1:c.4871G>A VV NP_001340884.1:p.Arg1624Gln
NM_001353957.1:c.4823G>A VV NP_001340886.1:p.Arg1608Gln
NM_001353958.1:c.4823G>A VV NP_001340887.1:p.Arg1608Gln
NM_001353960.1:c.4820G>A VV NP_001340889.1:p.Arg1607Gln
NM_001353961.1:c.2465G>A VV NP_001340890.1:p.Arg822Gln
NM_006920.5:c.4874G>A VV NP_008851.3:p.Arg1625Gln
NR_148667.1:n.5343G>A
XR_001738883.1:n.5357G>A
XR_001738884.1:n.5329G>A
ENST00000303395.8:c.4907G>A ENSP00000303540.4:p.Arg1636Gln
ENST00000375405.7:c.4874G>A ENSP00000364554.3:p.Arg1625Gln
ENST00000409050.1:n.4823G>A ENSP00000386312.1:p.Arg1608Gln
ENST00000423058.6:c.4907G>A ENSP00000407030.2:p.Arg1636Gln