Canonical Allele Identifier: CA2695197069

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 2651502
• ClinVar RCV Id: RCV003436231

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166052826_166052925del , CM000664.2:g.166052826_166052925del	GRCh38
NC_000002.11:g.166909336_166909435del , CM000664.1:g.166909336_166909435del	GRCh37
NC_000002.10:g.166617582_166617681del	NCBI36
NG_011906.1:g.25720_25819del , LRG_8:g.25720_25819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.626_694+31del
ENST00000303395.9:c.626_694+31del
ENST00000635750.1:c.626_694+31del
ENST00000635776.1:c.626_694+31del
ENST00000636194.1:c.626_694+31del
ENST00000636759.1:c.*416_*484+31del
ENST00000637968.1:n.878_946+31del
ENST00000637988.1:c.626_694+31del
ENST00000640036.1:c.694+119_694+218del	ENSP00000491573.1:n.694+119_694+218del
ENST00000641575.1:c.626_694+31del
ENST00000641603.1:c.626_694+31del
ENST00000641996.1:c.*180_*248+31del
ENST00000671940.1:c.626_694+31del
ENST00000673490.1:n.3099_3167+31del
ENST00000674923.1:c.626_694+31del
ENST00000303395.8:c.626_694+31del
ENST00000375405.7:c.626_694+31del
ENST00000409050.1:c.626_694+31del
ENST00000423058.6:c.626_694+31del
NM_001165963.1:c.626_694+31del
NM_001165964.1:c.626_694+31del
NM_001202435.1:c.626_694+31del
NM_006920.4:c.626_694+31del , LRG_8t1:c.626_694+31del
XM_011511598.1:c.626_694+31del
XM_011511599.1:c.626_694+31del
XM_011511600.1:c.626_694+31del
XM_011511601.1:c.626_694+31del
XM_011511602.1:c.626_694+31del
XM_011511603.1:c.626_694+31del
XM_011511604.1:c.626_694+31del
XM_011511605.1:c.626_694+31del
XM_011511606.1:c.626_694+31del
XM_011511607.1:c.626_694+31del
XR_922981.1:n.810_878+31del
NM_001165963.2:c.626_694+31del
NM_001165964.2:c.626_694+31del
NM_001202435.2:c.626_694+31del
NM_001353948.1:c.626_694+31del
NM_001353949.1:c.626_694+31del
NM_001353950.1:c.626_694+31del
NM_001353951.1:c.626_694+31del
NM_001353952.1:c.626_694+31del
NM_001353954.1:c.626_694+31del
NM_001353955.1:c.626_694+31del
NM_001353957.1:c.626_694+31del
NM_001353958.1:c.626_694+31del
NM_001353960.1:c.626_694+31del
NM_001353961.1:c.-1800_-1732+31del
NM_006920.5:c.626_694+31del
NR_148667.1:n.1031_1099+31del
XR_001738883.1:n.1012_1080+31del
XR_001738884.1:n.1017_1085+31del
NM_001165963.3:c.626_694+31del
NM_001165964.3:c.626_694+31del
NM_001202435.3:c.626_694+31del
NM_001353948.2:c.626_694+31del
NM_001353949.2:c.626_694+31del
NM_001353950.2:c.626_694+31del
NM_001353951.2:c.626_694+31del
NM_001353952.2:c.626_694+31del
NM_001353954.2:c.626_694+31del
NM_001353955.2:c.626_694+31del
NM_001353957.2:c.626_694+31del
NM_001353958.2:c.626_694+31del
NM_001353960.2:c.626_694+31del
NM_001353961.2:c.-1800_-1732+31del
NM_006920.6:c.626_694+31del
NR_148667.2:n.1012_1080+31del
NM_001165963.4:c.626_694+31del