Canonical Allele Identifier: CA284892
Gene: SCN1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 68517
ClinVar RCV Id: RCV000059389
dbSNP Id: rs121917982

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166073387C>G , CM000664.2:g.166073387C>G GRCh38
NC_000002.11:g.166929897C>G , CM000664.1:g.166929897C>G GRCh37
NC_000002.10:g.166638143C>G NCBI36
NG_011906.1:g.5253G>C , LRG_8:g.5253G>C

Transcript Alleles

HGVS Amino-acid change
NM_001165963.1:c.235G>C VV NP_001159435.1:p.Asp79His
NM_001165964.1:c.235G>C VV NP_001159436.1:p.Asp79His
NM_001202435.1:c.235G>C VV NP_001189364.1:p.Asp79His
NM_006920.4:c.235G>C , LRG_8t1:c.235G>C NP_008851.3:p.Asp79His
XM_011511598.1:c.235G>C XP_011509900.1:p.Asp79His
XM_011511599.1:c.235G>C XP_011509901.1:p.Asp79His
XM_011511600.1:c.235G>C XP_011509902.1:p.Asp79His
XM_011511601.1:c.235G>C XP_011509903.1:p.Asp79His
XM_011511602.1:c.235G>C XP_011509904.1:p.Asp79His
XM_011511603.1:c.235G>C XP_011509905.1:p.Asp79His
XM_011511604.1:c.235G>C XP_011509906.1:p.Asp79His
XM_011511605.1:c.235G>C XP_011509907.1:p.Asp79His
XM_011511606.1:c.235G>C XP_011509908.1:p.Asp79His
XM_011511607.1:c.235G>C XP_011509909.1:p.Asp79His
XR_922981.1:n.419G>C
NM_001165963.2:c.235G>C VV
NM_001165964.2:c.235G>C VV
NM_001202435.2:c.235G>C VV
NM_001353948.1:c.235G>C VV NP_001340877.1:p.Asp79His
NM_001353949.1:c.235G>C VV NP_001340878.1:p.Asp79His
NM_001353950.1:c.235G>C VV NP_001340879.1:p.Asp79His
NM_001353951.1:c.235G>C VV NP_001340880.1:p.Asp79His
NM_001353952.1:c.235G>C VV NP_001340881.1:p.Asp79His
NM_001353954.1:c.235G>C VV NP_001340883.1:p.Asp79His
NM_001353955.1:c.235G>C VV NP_001340884.1:p.Asp79His
NM_001353957.1:c.235G>C VV NP_001340886.1:p.Asp79His
NM_001353958.1:c.235G>C VV NP_001340887.1:p.Asp79His
NM_001353960.1:c.235G>C VV NP_001340889.1:p.Asp79His
NM_001353961.1:c.-2191G>C VV NP_001340890.1:p.=
NM_006920.5:c.235G>C VV
NR_148667.1:n.640G>C
XR_001738883.1:n.621G>C
XR_001738884.1:n.626G>C
ENST00000303395.8:c.235G>C ENSP00000303540.4:p.Asp79His
ENST00000375405.7:c.235G>C ENSP00000364554.3:p.Asp79His
ENST00000409050.1:n.235G>C ENSP00000386312.1:p.Asp79His
ENST00000423058.6:c.235G>C ENSP00000407030.2:p.Asp79His
ENST00000507401.2:n.626G>C