Canonical Allele Identifier: CA2739271499

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 2871227
• ClinVar RCV Id: RCV003752745

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166042287_166042309dup , CM000664.2:g.166042287_166042309dup	GRCh38
NC_000002.11:g.166898797_166898819dup , CM000664.1:g.166898797_166898819dup	GRCh37
NC_000002.10:g.166607043_166607065dup	NCBI36
NG_011906.1:g.36339_36361dup , LRG_8:g.36339_36361dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*203_*212+13dup
ENST00000303395.9:c.2167_2176+13dup
ENST00000635750.1:c.2134_2143+13dup
ENST00000635776.1:c.2134_2143+13dup
ENST00000636194.1:c.2134_2143+13dup
ENST00000636759.1:c.*1957_*1966+13dup
ENST00000637968.1:n.2419_2428+13dup
ENST00000637988.1:c.2134_2143+13dup
ENST00000640036.1:c.2134_2143+13dup
ENST00000641575.1:c.2131_2140+13dup
ENST00000641603.1:c.2167_2176+13dup
ENST00000641996.1:c.*1721_*1730+13dup
ENST00000671940.1:c.*110_*119+13dup
ENST00000673490.1:n.4640_4649+13dup
ENST00000674923.1:c.2167_2176+13dup
ENST00000303395.8:c.2167_2176+13dup
ENST00000375405.7:c.2134_2143+13dup
ENST00000409050.1:c.2083_2092+13dup
ENST00000423058.6:c.2167_2176+13dup
NM_001165963.1:c.2167_2176+13dup
NM_001165964.1:c.2083_2092+13dup
NM_001202435.1:c.2167_2176+13dup
NM_006920.4:c.2134_2143+13dup , LRG_8t1:c.2134_2143+13dup
XM_011511598.1:c.2167_2176+13dup
XM_011511599.1:c.2167_2176+13dup
XM_011511600.1:c.2167_2176+13dup
XM_011511601.1:c.2167_2176+13dup
XM_011511602.1:c.2167_2176+13dup
XM_011511603.1:c.2164_2173+13dup
XM_011511604.1:c.2134_2143+13dup
XM_011511605.1:c.2131_2140+13dup
XM_011511606.1:c.2083_2092+13dup
XM_011511607.1:c.2167_2176+13dup
XR_922981.1:n.2351_2360+13dup
NM_001165963.2:c.2167_2176+13dup
NM_001165964.2:c.2083_2092+13dup
NM_001202435.2:c.2167_2176+13dup
NM_001353948.1:c.2167_2176+13dup
NM_001353949.1:c.2134_2143+13dup
NM_001353950.1:c.2134_2143+13dup
NM_001353951.1:c.2134_2143+13dup
NM_001353952.1:c.2134_2143+13dup
NM_001353954.1:c.2131_2140+13dup
NM_001353955.1:c.2131_2140+13dup
NM_001353957.1:c.2083_2092+13dup
NM_001353958.1:c.2083_2092+13dup
NM_001353960.1:c.2080_2089+13dup
NM_001353961.1:c.-292_-283+13dup
NM_006920.5:c.2134_2143+13dup
NR_148667.1:n.2539_2548+13dup
XR_001738883.1:n.2553_2562+13dup
XR_001738884.1:n.2525_2534+13dup
NM_001165963.3:c.2167_2176+13dup
NM_001165964.3:c.2083_2092+13dup
NM_001202435.3:c.2167_2176+13dup
NM_001353948.2:c.2167_2176+13dup
NM_001353949.2:c.2134_2143+13dup
NM_001353950.2:c.2134_2143+13dup
NM_001353951.2:c.2134_2143+13dup
NM_001353952.2:c.2134_2143+13dup
NM_001353954.2:c.2131_2140+13dup
NM_001353955.2:c.2131_2140+13dup
NM_001353957.2:c.2083_2092+13dup
NM_001353958.2:c.2083_2092+13dup
NM_001353960.2:c.2080_2089+13dup
NM_001353961.2:c.-292_-283+13dup
NM_006920.6:c.2134_2143+13dup
NR_148667.2:n.2520_2529+13dup
NM_001165963.4:c.2167_2176+13dup