Canonical Allele Identifier: CA16610272
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 408930
ClinVar RCV Id: RCV000475845
dbSNP Id: rs1060502188
MyVariant Identifiers: chr2:g.166868676A>C (hg19) chr2:g.166012166A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166012166A>C , CM000664.2:g.166012166A>C GRCh38
NC_000002.11:g.166868676A>C , CM000664.1:g.166868676A>C GRCh37
NC_000002.10:g.166576922A>C NCBI36
NG_011906.1:g.66474T>G , LRG_8:g.66474T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000689288.1:c.*1858T>G ENSP00000509637.1:n.*1858T>G
ENST00000303395.9:c.3822T>G ENSP00000303540.4:p.Tyr1274Ter
ENST00000635750.1:c.3789T>G ENSP00000490799.1:p.Tyr1263Ter
ENST00000635776.1:c.3789T>G ENSP00000490692.1:p.Tyr1263Ter
ENST00000636194.1:c.*1315T>G ENSP00000490288.1:n.*1315T>G
ENST00000637038.1:c.620T>G
ENST00000637968.1:n.4074T>G
ENST00000637988.1:c.3789T>G ENSP00000490780.1:p.Tyr1263Ter
ENST00000640036.1:c.3789T>G ENSP00000491573.1:p.Tyr1263Ter
ENST00000641575.1:c.3786T>G ENSP00000492917.1:p.Tyr1262Ter
ENST00000641603.1:c.3822T>G ENSP00000492945.1:p.Tyr1274Ter
ENST00000641996.1:c.*3376T>G ENSP00000493054.1:n.*3376T>G
ENST00000671940.1:c.*1765T>G ENSP00000500336.1:n.*1765T>G
ENST00000673490.1:n.6295T>G
ENST00000674923.1:c.3822T>G MANE Select ENSP00000501589.1:p.Tyr1274Ter
ENST00000303395.8:c.3822T>G ENSP00000303540.4:p.Tyr1274Ter
ENST00000375405.7:c.3789T>G ENSP00000364554.3:p.Tyr1263Ter
ENST00000409050.1:c.3738T>G ENSP00000386312.1:p.Tyr1246Ter
ENST00000423058.6:c.3822T>G ENSP00000407030.2:p.Tyr1274Ter
NM_001165963.1:c.3822T>G NP_001159435.1:p.Tyr1274Ter
NM_001165964.1:c.3738T>G NP_001159436.1:p.Tyr1246Ter
NM_001202435.1:c.3822T>G NP_001189364.1:p.Tyr1274Ter
NM_006920.4:c.3789T>G , LRG_8t1:c.3789T>G NP_008851.3:p.Tyr1263Ter
NR_110598.1:n.176-3447A>C
XM_011511598.1:c.3822T>G XP_011509900.1:p.Tyr1274Ter
XM_011511599.1:c.3822T>G XP_011509901.1:p.Tyr1274Ter
XM_011511600.1:c.3822T>G XP_011509902.1:p.Tyr1274Ter
XM_011511601.1:c.3822T>G XP_011509903.1:p.Tyr1274Ter
XM_011511602.1:c.3822T>G XP_011509904.1:p.Tyr1274Ter
XM_011511603.1:c.3819T>G XP_011509905.1:p.Tyr1273Ter
XM_011511604.1:c.3789T>G XP_011509906.1:p.Tyr1263Ter
XM_011511605.1:c.3786T>G XP_011509907.1:p.Tyr1262Ter
XM_011511606.1:c.3738T>G XP_011509908.1:p.Tyr1246Ter
XM_011511607.1:c.3822T>G XP_011509909.1:p.Tyr1274Ter
XR_922981.1:n.4006T>G
NM_001165963.2:c.3822T>G NP_001159435.1:p.Tyr1274Ter
NM_001165964.2:c.3738T>G NP_001159436.1:p.Tyr1246Ter
NM_001202435.2:c.3822T>G NP_001189364.1:p.Tyr1274Ter
NM_001353948.1:c.3822T>G NP_001340877.1:p.Tyr1274Ter
NM_001353949.1:c.3789T>G NP_001340878.1:p.Tyr1263Ter
NM_001353950.1:c.3789T>G NP_001340879.1:p.Tyr1263Ter
NM_001353951.1:c.3789T>G NP_001340880.1:p.Tyr1263Ter
NM_001353952.1:c.3789T>G NP_001340881.1:p.Tyr1263Ter
NM_001353954.1:c.3786T>G NP_001340883.1:p.Tyr1262Ter
NM_001353955.1:c.3786T>G NP_001340884.1:p.Tyr1262Ter
NM_001353957.1:c.3738T>G NP_001340886.1:p.Tyr1246Ter
NM_001353958.1:c.3738T>G NP_001340887.1:p.Tyr1246Ter
NM_001353960.1:c.3735T>G NP_001340889.1:p.Tyr1245Ter
NM_001353961.1:c.1380T>G NP_001340890.1:p.Tyr460Ter
NM_006920.5:c.3789T>G NP_008851.3:p.Tyr1263Ter
NR_148667.1:n.4194T>G
XR_001738883.1:n.4208T>G
XR_001738884.1:n.4180T>G
NM_001165963.3:c.3822T>G NP_001159435.1:p.Tyr1274Ter
NM_001165964.3:c.3738T>G NP_001159436.1:p.Tyr1246Ter
NM_001202435.3:c.3822T>G NP_001189364.1:p.Tyr1274Ter
NM_001353948.2:c.3822T>G NP_001340877.1:p.Tyr1274Ter
NM_001353949.2:c.3789T>G NP_001340878.1:p.Tyr1263Ter
NM_001353950.2:c.3789T>G NP_001340879.1:p.Tyr1263Ter
NM_001353951.2:c.3789T>G NP_001340880.1:p.Tyr1263Ter
NM_001353952.2:c.3789T>G NP_001340881.1:p.Tyr1263Ter
NM_001353954.2:c.3786T>G NP_001340883.1:p.Tyr1262Ter
NM_001353955.2:c.3786T>G NP_001340884.1:p.Tyr1262Ter
NM_001353957.2:c.3738T>G NP_001340886.1:p.Tyr1246Ter
NM_001353958.2:c.3738T>G NP_001340887.1:p.Tyr1246Ter
NM_001353960.2:c.3735T>G NP_001340889.1:p.Tyr1245Ter
NM_001353961.2:c.1380T>G NP_001340890.1:p.Tyr460Ter
NM_006920.6:c.3789T>G NP_008851.3:p.Tyr1263Ter
NR_148667.2:n.4175T>G
NM_001165963.4:c.3822T>G MANE Select NP_001159435.1:p.Tyr1274Ter
Search 100 bp 5'
Search 100 bp 3'