Canonical Allele Identifier: CA303286

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 189912
• ClinVar RCV Id: RCV000180864 ; RCV000189014 ; RCV000692766
• dbSNP Id: rs779614747
• gnomAD v4: 2-165991619-G-A
• MyVariant Identifiers: chr2:g.166848129G>A (hg19) ; chr2:g.165991619G>A (hg38)
• PubMed: PMID:17054684 ; PMID:17347258 ; PMID:18930999 ; PMID:26096185

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165991619G>A , CM000664.2:g.165991619G>A	GRCh38
NC_000002.11:g.166848129G>A , CM000664.1:g.166848129G>A	GRCh37
NC_000002.10:g.166556375G>A	NCBI36
NG_011906.1:g.87021C>T , LRG_8:g.87021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*3692C>T	ENSP00000509637.1:n.*3692C>T
ENST00000303395.9:c.5656C>T	ENSP00000303540.4:p.Arg1886Ter
ENST00000635750.1:c.5623C>T	ENSP00000490799.1:p.Arg1875Ter
ENST00000635776.1:c.*2489C>T	ENSP00000490692.1:n.*2489C>T
ENST00000636194.1:c.*3149C>T	ENSP00000490288.1:n.*3149C>T
ENST00000637038.1:c.2518C>T
ENST00000637988.1:c.5623C>T	ENSP00000490780.1:p.Arg1875Ter
ENST00000640036.1:c.5623C>T	ENSP00000491573.1:p.Arg1875Ter
ENST00000641575.1:c.5620C>T	ENSP00000492917.1:p.Arg1874Ter
ENST00000641603.1:c.5374C>T	ENSP00000492945.1:p.Arg1792Ter
ENST00000641996.1:c.*5210C>T	ENSP00000493054.1:n.*5210C>T
ENST00000671940.1:c.*3599C>T	ENSP00000500336.1:n.*3599C>T
ENST00000673490.1:n.8129C>T
ENST00000674923.1:c.5656C>T MANE Select	ENSP00000501589.1:p.Arg1886Ter
ENST00000303395.8:c.5656C>T	ENSP00000303540.4:p.Arg1886Ter
ENST00000375405.7:c.5623C>T	ENSP00000364554.3:p.Arg1875Ter
ENST00000409050.1:c.5572C>T	ENSP00000386312.1:p.Arg1858Ter
ENST00000423058.6:c.5656C>T	ENSP00000407030.2:p.Arg1886Ter
NM_001165963.1:c.5656C>T	NP_001159435.1:p.Arg1886Ter
NM_001165964.1:c.5572C>T	NP_001159436.1:p.Arg1858Ter
NM_001202435.1:c.5656C>T	NP_001189364.1:p.Arg1886Ter
NM_006920.4:c.5623C>T , LRG_8t1:c.5623C>T	NP_008851.3:p.Arg1875Ter
NR_110598.1:n.176-23994G>A
XM_011511598.1:c.5656C>T	XP_011509900.1:p.Arg1886Ter
XM_011511599.1:c.5656C>T	XP_011509901.1:p.Arg1886Ter
XM_011511600.1:c.5656C>T	XP_011509902.1:p.Arg1886Ter
XM_011511601.1:c.5656C>T	XP_011509903.1:p.Arg1886Ter
XM_011511602.1:c.5656C>T	XP_011509904.1:p.Arg1886Ter
XM_011511603.1:c.5653C>T	XP_011509905.1:p.Arg1885Ter
XM_011511604.1:c.5623C>T	XP_011509906.1:p.Arg1875Ter
XM_011511605.1:c.5620C>T	XP_011509907.1:p.Arg1874Ter
XM_011511606.1:c.5572C>T	XP_011509908.1:p.Arg1858Ter
XM_011511607.1:c.5374C>T	XP_011509909.1:p.Arg1792Ter
NM_001165963.2:c.5656C>T	NP_001159435.1:p.Arg1886Ter
NM_001165964.2:c.5572C>T	NP_001159436.1:p.Arg1858Ter
NM_001202435.2:c.5656C>T	NP_001189364.1:p.Arg1886Ter
NM_001353948.1:c.5656C>T	NP_001340877.1:p.Arg1886Ter
NM_001353949.1:c.5623C>T	NP_001340878.1:p.Arg1875Ter
NM_001353950.1:c.5623C>T	NP_001340879.1:p.Arg1875Ter
NM_001353951.1:c.5623C>T	NP_001340880.1:p.Arg1875Ter
NM_001353952.1:c.5623C>T	NP_001340881.1:p.Arg1875Ter
NM_001353954.1:c.5620C>T	NP_001340883.1:p.Arg1874Ter
NM_001353955.1:c.5620C>T	NP_001340884.1:p.Arg1874Ter
NM_001353957.1:c.5572C>T	NP_001340886.1:p.Arg1858Ter
NM_001353958.1:c.5572C>T	NP_001340887.1:p.Arg1858Ter
NM_001353960.1:c.5569C>T	NP_001340889.1:p.Arg1857Ter
NM_001353961.1:c.3214C>T	NP_001340890.1:p.Arg1072Ter
NM_006920.5:c.5623C>T	NP_008851.3:p.Arg1875Ter
NR_148667.1:n.6092C>T
XR_001738883.1:n.6106C>T
XR_001738884.1:n.6078C>T
NM_001165963.3:c.5656C>T	NP_001159435.1:p.Arg1886Ter
NM_001165964.3:c.5572C>T	NP_001159436.1:p.Arg1858Ter
NM_001202435.3:c.5656C>T	NP_001189364.1:p.Arg1886Ter
NM_001353948.2:c.5656C>T	NP_001340877.1:p.Arg1886Ter
NM_001353949.2:c.5623C>T	NP_001340878.1:p.Arg1875Ter
NM_001353950.2:c.5623C>T	NP_001340879.1:p.Arg1875Ter
NM_001353951.2:c.5623C>T	NP_001340880.1:p.Arg1875Ter
NM_001353952.2:c.5623C>T	NP_001340881.1:p.Arg1875Ter
NM_001353954.2:c.5620C>T	NP_001340883.1:p.Arg1874Ter
NM_001353955.2:c.5620C>T	NP_001340884.1:p.Arg1874Ter
NM_001353957.2:c.5572C>T	NP_001340886.1:p.Arg1858Ter
NM_001353958.2:c.5572C>T	NP_001340887.1:p.Arg1858Ter
NM_001353960.2:c.5569C>T	NP_001340889.1:p.Arg1857Ter
NM_001353961.2:c.3214C>T	NP_001340890.1:p.Arg1072Ter
NM_006920.6:c.5623C>T	NP_008851.3:p.Arg1875Ter
NR_148667.2:n.6073C>T
NM_001165963.4:c.5656C>T MANE Select	NP_001159435.1:p.Arg1886Ter