Canonical Allele Identifier: CA16603840
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 379071
ClinVar RCV Id: RCV000439519 RCV002521550
dbSNP Id: rs1057520486
MyVariant Identifiers: chr2:g.166894281C>T (hg19) chr2:g.166037771C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166037771C>T , CM000664.2:g.166037771C>T GRCh38
NC_000002.11:g.166894281C>T , CM000664.1:g.166894281C>T GRCh37
NC_000002.10:g.166602527C>T NCBI36
NG_011906.1:g.40869G>A , LRG_8:g.40869G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000689288.1:c.*982+5G>A ENSP00000509637.1:n.*982+5G>A
ENST00000303395.9:c.2946+5G>A ENSP00000303540.4:n.2946+5G>A
ENST00000635750.1:c.2913+5G>A ENSP00000490799.1:n.2913+5G>A
ENST00000635776.1:c.2913+5G>A ENSP00000490692.1:n.2913+5G>A
ENST00000636194.1:c.*439+5G>A ENSP00000490288.1:n.*439+5G>A
ENST00000637968.1:n.3198+5G>A
ENST00000637988.1:c.2913+5G>A ENSP00000490780.1:n.2913+5G>A
ENST00000640036.1:c.2913+5G>A ENSP00000491573.1:n.2913+5G>A
ENST00000641575.1:c.2910+5G>A ENSP00000492917.1:n.2910+5G>A
ENST00000641603.1:c.2946+5G>A ENSP00000492945.1:n.2946+5G>A
ENST00000641996.1:c.*2500+5G>A ENSP00000493054.1:n.*2500+5G>A
ENST00000671940.1:c.*889+5G>A ENSP00000500336.1:n.*889+5G>A
ENST00000673490.1:n.5419+5G>A
ENST00000674923.1:c.2946+5G>A MANE Select ENSP00000501589.1:n.2946+5G>A
ENST00000303395.8:c.2946+5G>A ENSP00000303540.4:n.2946+5G>A
ENST00000375405.7:c.2913+5G>A ENSP00000364554.3:n.2913+5G>A
ENST00000409050.1:c.2862+5G>A ENSP00000386312.1:n.2862+5G>A
ENST00000423058.6:c.2946+5G>A ENSP00000407030.2:n.2946+5G>A
NM_001165963.1:c.2946+5G>A NP_001159435.1:n.2946+5G>A
NM_001165964.1:c.2862+5G>A NP_001159436.1:n.2862+5G>A
NM_001202435.1:c.2946+5G>A NP_001189364.1:n.2946+5G>A
NM_006920.4:c.2913+5G>A , LRG_8t1:c.2913+5G>A NP_008851.3:n.2913+5G>A
XM_011511598.1:c.2946+5G>A XP_011509900.1:n.2946+5G>A
XM_011511599.1:c.2946+5G>A XP_011509901.1:n.2946+5G>A
XM_011511600.1:c.2946+5G>A XP_011509902.1:n.2946+5G>A
XM_011511601.1:c.2946+5G>A XP_011509903.1:n.2946+5G>A
XM_011511602.1:c.2946+5G>A XP_011509904.1:n.2946+5G>A
XM_011511603.1:c.2943+5G>A XP_011509905.1:n.2943+5G>A
XM_011511604.1:c.2913+5G>A XP_011509906.1:n.2913+5G>A
XM_011511605.1:c.2910+5G>A XP_011509907.1:n.2910+5G>A
XM_011511606.1:c.2862+5G>A XP_011509908.1:n.2862+5G>A
XM_011511607.1:c.2946+5G>A XP_011509909.1:n.2946+5G>A
XR_922981.1:n.3130+5G>A
NM_001165963.2:c.2946+5G>A NP_001159435.1:n.2946+5G>A
NM_001165964.2:c.2862+5G>A NP_001159436.1:n.2862+5G>A
NM_001202435.2:c.2946+5G>A NP_001189364.1:n.2946+5G>A
NM_001353948.1:c.2946+5G>A NP_001340877.1:n.2946+5G>A
NM_001353949.1:c.2913+5G>A NP_001340878.1:n.2913+5G>A
NM_001353950.1:c.2913+5G>A NP_001340879.1:n.2913+5G>A
NM_001353951.1:c.2913+5G>A NP_001340880.1:n.2913+5G>A
NM_001353952.1:c.2913+5G>A NP_001340881.1:n.2913+5G>A
NM_001353954.1:c.2910+5G>A NP_001340883.1:n.2910+5G>A
NM_001353955.1:c.2910+5G>A NP_001340884.1:n.2910+5G>A
NM_001353957.1:c.2862+5G>A NP_001340886.1:n.2862+5G>A
NM_001353958.1:c.2862+5G>A NP_001340887.1:n.2862+5G>A
NM_001353960.1:c.2859+5G>A NP_001340889.1:n.2859+5G>A
NM_001353961.1:c.504+5G>A NP_001340890.1:n.504+5G>A
NM_006920.5:c.2913+5G>A NP_008851.3:n.2913+5G>A
NR_148667.1:n.3318+5G>A
XR_001738883.1:n.3332+5G>A
XR_001738884.1:n.3304+5G>A
NM_001165963.3:c.2946+5G>A NP_001159435.1:n.2946+5G>A
NM_001165964.3:c.2862+5G>A NP_001159436.1:n.2862+5G>A
NM_001202435.3:c.2946+5G>A NP_001189364.1:n.2946+5G>A
NM_001353948.2:c.2946+5G>A NP_001340877.1:n.2946+5G>A
NM_001353949.2:c.2913+5G>A NP_001340878.1:n.2913+5G>A
NM_001353950.2:c.2913+5G>A NP_001340879.1:n.2913+5G>A
NM_001353951.2:c.2913+5G>A NP_001340880.1:n.2913+5G>A
NM_001353952.2:c.2913+5G>A NP_001340881.1:n.2913+5G>A
NM_001353954.2:c.2910+5G>A NP_001340883.1:n.2910+5G>A
NM_001353955.2:c.2910+5G>A NP_001340884.1:n.2910+5G>A
NM_001353957.2:c.2862+5G>A NP_001340886.1:n.2862+5G>A
NM_001353958.2:c.2862+5G>A NP_001340887.1:n.2862+5G>A
NM_001353960.2:c.2859+5G>A NP_001340889.1:n.2859+5G>A
NM_001353961.2:c.504+5G>A NP_001340890.1:n.504+5G>A
NM_006920.6:c.2913+5G>A NP_008851.3:n.2913+5G>A
NR_148667.2:n.3299+5G>A
NM_001165963.4:c.2946+5G>A MANE Select NP_001159435.1:n.2946+5G>A
Search 100 bp 5'
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