Canonical Allele Identifier: CA303148

Gene: SCN1A

Linked Data

• dbSNP Id: rs794726715
• MyVariant Identifiers: chr2:g.166894286del (hg19) ; chr2:g.166037776del (hg38)
• PubMed: PMID:26096185

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166037776del , CM000664.2:g.166037776del	GRCh38
NC_000002.11:g.166894286del , CM000664.1:g.166894286del	GRCh37
NC_000002.10:g.166602532del	NCBI36
NG_011906.1:g.40865del , LRG_8:g.40865del

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*982+1del
ENST00000303395.9:c.2946+1del
ENST00000635750.1:c.2913+1del
ENST00000635776.1:c.2913+1del
ENST00000636194.1:c.*439+1del
ENST00000637968.1:n.3198+1del
ENST00000637988.1:c.2913+1del
ENST00000640036.1:c.2913+1del
ENST00000641575.1:c.2910+1del
ENST00000641603.1:c.2946+1del
ENST00000641996.1:c.*2500+1del
ENST00000671940.1:c.*889+1del
ENST00000673490.1:n.5419+1del
ENST00000674923.1:c.2946+1del
ENST00000303395.8:c.2946+1del
ENST00000375405.7:c.2913+1del
ENST00000409050.1:c.2862+1del
ENST00000423058.6:c.2946+1del
NM_001165963.1:c.2946+1del
NM_001165964.1:c.2862+1del
NM_001202435.1:c.2946+1del
NM_006920.4:c.2913+1del , LRG_8t1:c.2913+1del
XM_011511598.1:c.2946+1del
XM_011511599.1:c.2946+1del
XM_011511600.1:c.2946+1del
XM_011511601.1:c.2946+1del
XM_011511602.1:c.2946+1del
XM_011511603.1:c.2943+1del
XM_011511604.1:c.2913+1del
XM_011511605.1:c.2910+1del
XM_011511606.1:c.2862+1del
XM_011511607.1:c.2946+1del
XR_922981.1:n.3130+1del
NM_001165963.2:c.2946+1del
NM_001165964.2:c.2862+1del
NM_001202435.2:c.2946+1del
NM_001353948.1:c.2946+1del
NM_001353949.1:c.2913+1del
NM_001353950.1:c.2913+1del
NM_001353951.1:c.2913+1del
NM_001353952.1:c.2913+1del
NM_001353954.1:c.2910+1del
NM_001353955.1:c.2910+1del
NM_001353957.1:c.2862+1del
NM_001353958.1:c.2862+1del
NM_001353960.1:c.2859+1del
NM_001353961.1:c.504+1del
NM_006920.5:c.2913+1del
NR_148667.1:n.3318+1del
XR_001738883.1:n.3332+1del
XR_001738884.1:n.3304+1del
NM_001165963.3:c.2946+1del
NM_001165964.3:c.2862+1del
NM_001202435.3:c.2946+1del
NM_001353948.2:c.2946+1del
NM_001353949.2:c.2913+1del
NM_001353950.2:c.2913+1del
NM_001353951.2:c.2913+1del
NM_001353952.2:c.2913+1del
NM_001353954.2:c.2910+1del
NM_001353955.2:c.2910+1del
NM_001353957.2:c.2862+1del
NM_001353958.2:c.2862+1del
NM_001353960.2:c.2859+1del
NM_001353961.2:c.504+1del
NM_006920.6:c.2913+1del
NR_148667.2:n.3299+1del
NM_001165963.4:c.2946+1del