Canonical Allele Identifier: CA285150
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68624
dbSNP Id: rs121918740

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166012128A>G , CM000664.2:g.166012128A>G GRCh38
NC_000002.11:g.166868638A>G , CM000664.1:g.166868638A>G GRCh37
NC_000002.10:g.166576884A>G NCBI36
NG_011906.1:g.66512T>C , LRG_8:g.66512T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000689288.1:c.*1896T>C ENSP00000509637.1:n.*1896T>C
ENST00000303395.9:c.3860T>C ENSP00000303540.4:p.Leu1287Pro
ENST00000635750.1:c.3827T>C ENSP00000490799.1:p.Leu1276Pro
ENST00000635776.1:c.3827T>C ENSP00000490692.1:p.Leu1276Pro
ENST00000636194.1:c.*1353T>C ENSP00000490288.1:n.*1353T>C
ENST00000637038.1:c.658T>C
ENST00000637968.1:n.4112T>C
ENST00000637988.1:c.3827T>C ENSP00000490780.1:p.Leu1276Pro
ENST00000640036.1:c.3827T>C ENSP00000491573.1:p.Leu1276Pro
ENST00000641575.1:c.3824T>C ENSP00000492917.1:p.Leu1275Pro
ENST00000641603.1:c.3860T>C ENSP00000492945.1:p.Leu1287Pro
ENST00000641996.1:c.*3414T>C ENSP00000493054.1:n.*3414T>C
ENST00000671940.1:c.*1803T>C ENSP00000500336.1:n.*1803T>C
ENST00000673490.1:n.6333T>C
ENST00000674923.1:c.3860T>C MANE Select ENSP00000501589.1:p.Leu1287Pro
ENST00000303395.8:c.3860T>C ENSP00000303540.4:p.Leu1287Pro
ENST00000375405.7:c.3827T>C ENSP00000364554.3:p.Leu1276Pro
ENST00000409050.1:c.3776T>C ENSP00000386312.1:p.Leu1259Pro
ENST00000423058.6:c.3860T>C ENSP00000407030.2:p.Leu1287Pro
NM_001165963.1:c.3860T>C NP_001159435.1:p.Leu1287Pro
NM_001165964.1:c.3776T>C NP_001159436.1:p.Leu1259Pro
NM_001202435.1:c.3860T>C NP_001189364.1:p.Leu1287Pro
NM_006920.4:c.3827T>C , LRG_8t1:c.3827T>C NP_008851.3:p.Leu1276Pro
NR_110598.1:n.176-3485A>G
XM_011511598.1:c.3860T>C XP_011509900.1:p.Leu1287Pro
XM_011511599.1:c.3860T>C XP_011509901.1:p.Leu1287Pro
XM_011511600.1:c.3860T>C XP_011509902.1:p.Leu1287Pro
XM_011511601.1:c.3860T>C XP_011509903.1:p.Leu1287Pro
XM_011511602.1:c.3860T>C XP_011509904.1:p.Leu1287Pro
XM_011511603.1:c.3857T>C XP_011509905.1:p.Leu1286Pro
XM_011511604.1:c.3827T>C XP_011509906.1:p.Leu1276Pro
XM_011511605.1:c.3824T>C XP_011509907.1:p.Leu1275Pro
XM_011511606.1:c.3776T>C XP_011509908.1:p.Leu1259Pro
XM_011511607.1:c.3860T>C XP_011509909.1:p.Leu1287Pro
XR_922981.1:n.4044T>C
NM_001165963.2:c.3860T>C NP_001159435.1:p.Leu1287Pro
NM_001165964.2:c.3776T>C NP_001159436.1:p.Leu1259Pro
NM_001202435.2:c.3860T>C NP_001189364.1:p.Leu1287Pro
NM_001353948.1:c.3860T>C NP_001340877.1:p.Leu1287Pro
NM_001353949.1:c.3827T>C NP_001340878.1:p.Leu1276Pro
NM_001353950.1:c.3827T>C NP_001340879.1:p.Leu1276Pro
NM_001353951.1:c.3827T>C NP_001340880.1:p.Leu1276Pro
NM_001353952.1:c.3827T>C NP_001340881.1:p.Leu1276Pro
NM_001353954.1:c.3824T>C NP_001340883.1:p.Leu1275Pro
NM_001353955.1:c.3824T>C NP_001340884.1:p.Leu1275Pro
NM_001353957.1:c.3776T>C NP_001340886.1:p.Leu1259Pro
NM_001353958.1:c.3776T>C NP_001340887.1:p.Leu1259Pro
NM_001353960.1:c.3773T>C NP_001340889.1:p.Leu1258Pro
NM_001353961.1:c.1418T>C NP_001340890.1:p.Leu473Pro
NM_006920.5:c.3827T>C NP_008851.3:p.Leu1276Pro
NR_148667.1:n.4232T>C
XR_001738883.1:n.4246T>C
XR_001738884.1:n.4218T>C
NM_001165963.3:c.3860T>C NP_001159435.1:p.Leu1287Pro
NM_001165964.3:c.3776T>C NP_001159436.1:p.Leu1259Pro
NM_001202435.3:c.3860T>C NP_001189364.1:p.Leu1287Pro
NM_001353948.2:c.3860T>C NP_001340877.1:p.Leu1287Pro
NM_001353949.2:c.3827T>C NP_001340878.1:p.Leu1276Pro
NM_001353950.2:c.3827T>C NP_001340879.1:p.Leu1276Pro
NM_001353951.2:c.3827T>C NP_001340880.1:p.Leu1276Pro
NM_001353952.2:c.3827T>C NP_001340881.1:p.Leu1276Pro
NM_001353954.2:c.3824T>C NP_001340883.1:p.Leu1275Pro
NM_001353955.2:c.3824T>C NP_001340884.1:p.Leu1275Pro
NM_001353957.2:c.3776T>C NP_001340886.1:p.Leu1259Pro
NM_001353958.2:c.3776T>C NP_001340887.1:p.Leu1259Pro
NM_001353960.2:c.3773T>C NP_001340889.1:p.Leu1258Pro
NM_001353961.2:c.1418T>C NP_001340890.1:p.Leu473Pro
NM_006920.6:c.3827T>C NP_008851.3:p.Leu1276Pro
NR_148667.2:n.4213T>C
NM_001165963.4:c.3860T>C MANE Select NP_001159435.1:p.Leu1287Pro