Canonical Allele Identifier: CA16042392
Gene: SCN1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373117
ClinVar RCV Id: RCV000414152
dbSNP Id: rs1057518229

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166009824del , CM000664.2:g.166009824del GRCh38
NC_000002.11:g.166866334del , CM000664.1:g.166866334del GRCh37
NC_000002.10:g.166574580del NCBI36
NG_011906.1:g.68817del , LRG_8:g.68817del

Transcript Alleles

HGVS Amino-acid change
NM_001165963.1:c.3898del VV NP_001159435.1:p.Thr1300GlnfsTer19
NM_001165964.1:c.3814del VV NP_001159436.1:p.Thr1272GlnfsTer19
NM_001202435.1:c.3898del VV NP_001189364.1:p.Thr1300GlnfsTer19
NM_006920.4:c.3865del , LRG_8t1:c.3865del NP_008851.3:p.Thr1289GlnfsTer19
NR_110598.1:n.176-5789del
XM_011511598.1:c.3898del XP_011509900.1:p.Thr1300GlnfsTer19
XM_011511599.1:c.3898del XP_011509901.1:p.Thr1300GlnfsTer19
XM_011511600.1:c.3898del XP_011509902.1:p.Thr1300GlnfsTer19
XM_011511601.1:c.3898del XP_011509903.1:p.Thr1300GlnfsTer19
XM_011511602.1:c.3898del XP_011509904.1:p.Thr1300GlnfsTer19
XM_011511603.1:c.3895del XP_011509905.1:p.Thr1299GlnfsTer19
XM_011511604.1:c.3865del XP_011509906.1:p.Thr1289GlnfsTer19
XM_011511605.1:c.3862del XP_011509907.1:p.Thr1288GlnfsTer19
XM_011511606.1:c.3814del XP_011509908.1:p.Thr1272GlnfsTer19
XM_011511607.1:c.3898del XP_011509909.1:p.Thr1300GlnfsTer19
XR_922981.1:n.4082del
NM_001165963.2:c.3898del VV
NM_001165964.2:c.3814del VV
NM_001202435.2:c.3898del VV
NM_001353948.1:c.3898del VV NP_001340877.1:p.Thr1300GlnfsTer19
NM_001353949.1:c.3865del VV NP_001340878.1:p.Thr1289GlnfsTer19
NM_001353950.1:c.3865del VV NP_001340879.1:p.Thr1289GlnfsTer19
NM_001353951.1:c.3865del VV NP_001340880.1:p.Thr1289GlnfsTer19
NM_001353952.1:c.3865del VV NP_001340881.1:p.Thr1289GlnfsTer19
NM_001353954.1:c.3862del VV NP_001340883.1:p.Thr1288GlnfsTer19
NM_001353955.1:c.3862del VV NP_001340884.1:p.Thr1288GlnfsTer19
NM_001353957.1:c.3814del VV NP_001340886.1:p.Thr1272GlnfsTer19
NM_001353958.1:c.3814del VV NP_001340887.1:p.Thr1272GlnfsTer19
NM_001353960.1:c.3811del VV NP_001340889.1:p.Thr1271GlnfsTer19
NM_001353961.1:c.1456del VV NP_001340890.1:p.Thr486GlnfsTer19
NM_006920.5:c.3865del VV
NR_148667.1:n.4270del
XR_001738883.1:n.4284del
XR_001738884.1:n.4256del
ENST00000303395.8:c.3898del ENSP00000303540.4:p.Thr1300GlnfsTer19
ENST00000375405.7:c.3865del ENSP00000364554.3:p.Thr1289GlnfsTer19
ENST00000409050.1:n.3814del ENSP00000386312.1:p.Thr1272GlnfsTer19
ENST00000423058.6:c.3898del ENSP00000407030.2:p.Thr1300GlnfsTer19