Canonical Allele Identifier: CA349069335

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 1057139
• ClinVar RCV Id: RCV001366069
• dbSNP Id: rs2105432780
• MyVariant Identifiers: chr2:g.166848705A>C (hg19) ; chr2:g.165992195A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165992195A>C , CM000664.2:g.165992195A>C	GRCh38
NC_000002.11:g.166848705A>C , CM000664.1:g.166848705A>C	GRCh37
NC_000002.10:g.166556951A>C	NCBI36
NG_011906.1:g.86445T>G , LRG_8:g.86445T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*3116T>G	ENSP00000509637.1:n.*3116T>G
ENST00000303395.9:c.5080T>G	ENSP00000303540.4:p.Tyr1694Asp
ENST00000635750.1:c.5047T>G	ENSP00000490799.1:p.Tyr1683Asp
ENST00000635776.1:c.*1913T>G	ENSP00000490692.1:n.*1913T>G
ENST00000636194.1:c.*2573T>G	ENSP00000490288.1:n.*2573T>G
ENST00000637038.1:c.1942T>G
ENST00000637988.1:c.5047T>G	ENSP00000490780.1:p.Tyr1683Asp
ENST00000640036.1:c.5047T>G	ENSP00000491573.1:p.Tyr1683Asp
ENST00000641575.1:c.5044T>G	ENSP00000492917.1:p.Tyr1682Asp
ENST00000641603.1:c.4798T>G	ENSP00000492945.1:p.Tyr1600Asp
ENST00000641996.1:c.*4634T>G	ENSP00000493054.1:n.*4634T>G
ENST00000671940.1:c.*3023T>G	ENSP00000500336.1:n.*3023T>G
ENST00000673490.1:n.7553T>G
ENST00000674923.1:c.5080T>G MANE Select	ENSP00000501589.1:p.Tyr1694Asp
ENST00000303395.8:c.5080T>G	ENSP00000303540.4:p.Tyr1694Asp
ENST00000375405.7:c.5047T>G	ENSP00000364554.3:p.Tyr1683Asp
ENST00000409050.1:c.4996T>G	ENSP00000386312.1:p.Tyr1666Asp
ENST00000423058.6:c.5080T>G	ENSP00000407030.2:p.Tyr1694Asp
NM_001165963.1:c.5080T>G	NP_001159435.1:p.Tyr1694Asp
NM_001165964.1:c.4996T>G	NP_001159436.1:p.Tyr1666Asp
NM_001202435.1:c.5080T>G	NP_001189364.1:p.Tyr1694Asp
NM_006920.4:c.5047T>G , LRG_8t1:c.5047T>G	NP_008851.3:p.Tyr1683Asp
NR_110598.1:n.176-23418A>C
XM_011511598.1:c.5080T>G	XP_011509900.1:p.Tyr1694Asp
XM_011511599.1:c.5080T>G	XP_011509901.1:p.Tyr1694Asp
XM_011511600.1:c.5080T>G	XP_011509902.1:p.Tyr1694Asp
XM_011511601.1:c.5080T>G	XP_011509903.1:p.Tyr1694Asp
XM_011511602.1:c.5080T>G	XP_011509904.1:p.Tyr1694Asp
XM_011511603.1:c.5077T>G	XP_011509905.1:p.Tyr1693Asp
XM_011511604.1:c.5047T>G	XP_011509906.1:p.Tyr1683Asp
XM_011511605.1:c.5044T>G	XP_011509907.1:p.Tyr1682Asp
XM_011511606.1:c.4996T>G	XP_011509908.1:p.Tyr1666Asp
XM_011511607.1:c.4798T>G	XP_011509909.1:p.Tyr1600Asp
NM_001165963.2:c.5080T>G	NP_001159435.1:p.Tyr1694Asp
NM_001165964.2:c.4996T>G	NP_001159436.1:p.Tyr1666Asp
NM_001202435.2:c.5080T>G	NP_001189364.1:p.Tyr1694Asp
NM_001353948.1:c.5080T>G	NP_001340877.1:p.Tyr1694Asp
NM_001353949.1:c.5047T>G	NP_001340878.1:p.Tyr1683Asp
NM_001353950.1:c.5047T>G	NP_001340879.1:p.Tyr1683Asp
NM_001353951.1:c.5047T>G	NP_001340880.1:p.Tyr1683Asp
NM_001353952.1:c.5047T>G	NP_001340881.1:p.Tyr1683Asp
NM_001353954.1:c.5044T>G	NP_001340883.1:p.Tyr1682Asp
NM_001353955.1:c.5044T>G	NP_001340884.1:p.Tyr1682Asp
NM_001353957.1:c.4996T>G	NP_001340886.1:p.Tyr1666Asp
NM_001353958.1:c.4996T>G	NP_001340887.1:p.Tyr1666Asp
NM_001353960.1:c.4993T>G	NP_001340889.1:p.Tyr1665Asp
NM_001353961.1:c.2638T>G	NP_001340890.1:p.Tyr880Asp
NM_006920.5:c.5047T>G	NP_008851.3:p.Tyr1683Asp
NR_148667.1:n.5516T>G
XR_001738883.1:n.5530T>G
XR_001738884.1:n.5502T>G
NM_001165963.3:c.5080T>G	NP_001159435.1:p.Tyr1694Asp
NM_001165964.3:c.4996T>G	NP_001159436.1:p.Tyr1666Asp
NM_001202435.3:c.5080T>G	NP_001189364.1:p.Tyr1694Asp
NM_001353948.2:c.5080T>G	NP_001340877.1:p.Tyr1694Asp
NM_001353949.2:c.5047T>G	NP_001340878.1:p.Tyr1683Asp
NM_001353950.2:c.5047T>G	NP_001340879.1:p.Tyr1683Asp
NM_001353951.2:c.5047T>G	NP_001340880.1:p.Tyr1683Asp
NM_001353952.2:c.5047T>G	NP_001340881.1:p.Tyr1683Asp
NM_001353954.2:c.5044T>G	NP_001340883.1:p.Tyr1682Asp
NM_001353955.2:c.5044T>G	NP_001340884.1:p.Tyr1682Asp
NM_001353957.2:c.4996T>G	NP_001340886.1:p.Tyr1666Asp
NM_001353958.2:c.4996T>G	NP_001340887.1:p.Tyr1666Asp
NM_001353960.2:c.4993T>G	NP_001340889.1:p.Tyr1665Asp
NM_001353961.2:c.2638T>G	NP_001340890.1:p.Tyr880Asp
NM_006920.6:c.5047T>G	NP_008851.3:p.Tyr1683Asp
NR_148667.2:n.5497T>G
NM_001165963.4:c.5080T>G MANE Select	NP_001159435.1:p.Tyr1694Asp