Canonical Allele Identifier: CA16042356
Gene: SCN1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373148
ClinVar RCV Id: RCV000413245
dbSNP Id: rs1057518252

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165991993A>G , CM000664.2:g.165991993A>G GRCh38
NC_000002.11:g.166848503A>G , CM000664.1:g.166848503A>G GRCh37
NC_000002.10:g.166556749A>G NCBI36
NG_011906.1:g.86647T>C , LRG_8:g.86647T>C

Transcript Alleles

HGVS Amino-acid change
NM_001165963.1:c.5282T>C VV NP_001159435.1:p.Val1761Ala
NM_001165964.1:c.5198T>C VV NP_001159436.1:p.Val1733Ala
NM_001202435.1:c.5282T>C VV NP_001189364.1:p.Val1761Ala
NM_006920.4:c.5249T>C , LRG_8t1:c.5249T>C NP_008851.3:p.Val1750Ala
NR_110598.1:n.176-23620A>G
XM_011511598.1:c.5282T>C XP_011509900.1:p.Val1761Ala
XM_011511599.1:c.5282T>C XP_011509901.1:p.Val1761Ala
XM_011511600.1:c.5282T>C XP_011509902.1:p.Val1761Ala
XM_011511601.1:c.5282T>C XP_011509903.1:p.Val1761Ala
XM_011511602.1:c.5282T>C XP_011509904.1:p.Val1761Ala
XM_011511603.1:c.5279T>C XP_011509905.1:p.Val1760Ala
XM_011511604.1:c.5249T>C XP_011509906.1:p.Val1750Ala
XM_011511605.1:c.5246T>C XP_011509907.1:p.Val1749Ala
XM_011511606.1:c.5198T>C XP_011509908.1:p.Val1733Ala
XM_011511607.1:c.5000T>C XP_011509909.1:p.Val1667Ala
NM_001165963.2:c.5282T>C VV NP_001159435.1:p.Val1761Ala
NM_001165964.2:c.5198T>C VV NP_001159436.1:p.Val1733Ala
NM_001202435.2:c.5282T>C VV NP_001189364.1:p.Val1761Ala
NM_001353948.1:c.5282T>C VV NP_001340877.1:p.Val1761Ala
NM_001353949.1:c.5249T>C VV NP_001340878.1:p.Val1750Ala
NM_001353950.1:c.5249T>C VV NP_001340879.1:p.Val1750Ala
NM_001353951.1:c.5249T>C VV NP_001340880.1:p.Val1750Ala
NM_001353952.1:c.5249T>C VV NP_001340881.1:p.Val1750Ala
NM_001353954.1:c.5246T>C VV NP_001340883.1:p.Val1749Ala
NM_001353955.1:c.5246T>C VV NP_001340884.1:p.Val1749Ala
NM_001353957.1:c.5198T>C VV NP_001340886.1:p.Val1733Ala
NM_001353958.1:c.5198T>C VV NP_001340887.1:p.Val1733Ala
NM_001353960.1:c.5195T>C VV NP_001340889.1:p.Val1732Ala
NM_001353961.1:c.2840T>C VV NP_001340890.1:p.Val947Ala
NM_006920.5:c.5249T>C VV NP_008851.3:p.Val1750Ala
NR_148667.1:n.5718T>C
XR_001738883.1:n.5732T>C
XR_001738884.1:n.5704T>C
ENST00000303395.8:c.5282T>C ENSP00000303540.4:p.Val1761Ala
ENST00000375405.7:c.5249T>C ENSP00000364554.3:p.Val1750Ala
ENST00000409050.1:n.5198T>C ENSP00000386312.1:p.Val1733Ala
ENST00000423058.6:c.5282T>C ENSP00000407030.2:p.Val1761Ala