Canonical Allele Identifier: CA2573133494
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1459082
ClinVar RCV Id: RCV001958832
dbSNP Id: rs2105981661

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166073317_166073548del , CM000664.2:g.166073317_166073548del GRCh38
NC_000002.11:g.166929827_166930058del , CM000664.1:g.166929827_166930058del GRCh37
NC_000002.10:g.166638073_166638304del NCBI36
NG_011906.1:g.5092_5323del , LRG_8:g.5092_5323del

Transcript Alleles

HGVS Amino-acid Change
ENST00000689288.1:c.74_264+41del
ENST00000303395.9:c.74_264+41del
ENST00000635750.1:c.74_264+41del
ENST00000635776.1:c.74_264+41del
ENST00000636194.1:c.74_264+41del
ENST00000636759.1:c.74_264+41del
ENST00000637968.1:n.326_516+41del
ENST00000637988.1:c.74_264+41del
ENST00000640036.1:c.74_264+41del
ENST00000641575.1:c.74_264+41del
ENST00000641603.1:c.74_264+41del
ENST00000641996.1:c.74_264+41del
ENST00000642141.1:n.467_657+41del
ENST00000671940.1:c.74_264+41del
ENST00000673490.1:n.368_558+41del
ENST00000674923.1:c.74_264+41del
ENST00000303395.8:c.74_264+41del
ENST00000375405.7:c.74_264+41del
ENST00000409050.1:c.74_264+41del
ENST00000423058.6:c.74_264+41del
ENST00000507401.2:n.465_696del
NM_001165963.1:c.74_264+41del
NM_001165964.1:c.74_264+41del
NM_001202435.1:c.74_264+41del
NM_006920.4:c.74_264+41del , LRG_8t1:c.74_264+41del
XM_011511598.1:c.74_264+41del
XM_011511599.1:c.74_264+41del
XM_011511600.1:c.74_264+41del
XM_011511601.1:c.74_264+41del
XM_011511602.1:c.74_264+41del
XM_011511603.1:c.74_264+41del
XM_011511604.1:c.74_264+41del
XM_011511605.1:c.74_264+41del
XM_011511606.1:c.74_264+41del
XM_011511607.1:c.74_264+41del
XR_922981.1:n.258_448+41del
NM_001165963.2:c.74_264+41del
NM_001165964.2:c.74_264+41del
NM_001202435.2:c.74_264+41del
NM_001353948.1:c.74_264+41del
NM_001353949.1:c.74_264+41del
NM_001353950.1:c.74_264+41del
NM_001353951.1:c.74_264+41del
NM_001353952.1:c.74_264+41del
NM_001353954.1:c.74_264+41del
NM_001353955.1:c.74_264+41del
NM_001353957.1:c.74_264+41del
NM_001353958.1:c.74_264+41del
NM_001353960.1:c.74_264+41del
NM_001353961.1:c.-2352_-2162+41del
NM_006920.5:c.74_264+41del
NR_148667.1:n.479_669+41del
XR_001738883.1:n.460_650+41del
XR_001738884.1:n.465_655+41del
NM_001165963.3:c.74_264+41del
NM_001165964.3:c.74_264+41del
NM_001202435.3:c.74_264+41del
NM_001353948.2:c.74_264+41del
NM_001353949.2:c.74_264+41del
NM_001353950.2:c.74_264+41del
NM_001353951.2:c.74_264+41del
NM_001353952.2:c.74_264+41del
NM_001353954.2:c.74_264+41del
NM_001353955.2:c.74_264+41del
NM_001353957.2:c.74_264+41del
NM_001353958.2:c.74_264+41del
NM_001353960.2:c.74_264+41del
NM_001353961.2:c.-2352_-2162+41del
NM_006920.6:c.74_264+41del
NR_148667.2:n.460_650+41del
NM_001165963.4:c.74_264+41del