Canonical Allele Identifier: CA3089702880
Community Standard Title: NM_001165963.4(SCN1A):c.2618G= (p.Trp873=)
Gene: SCN1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166038104C= , CM000664.2:g.166038104C= GRCh38
NC_000002.11:g.166894614C= , CM000664.1:g.166894614C= GRCh37
NC_000002.10:g.166602860C= NCBI36
NG_011906.1:g.40536G= , LRG_8:g.40536G=

Transcript Alleles

HGVS Amino-acid Change
NM_001165963.4:c.2618G= MANE Select NP_001159435.1:p.Trp873=
ENST00000674923.1:c.2618G= MANE Select ENSP00000501589.1:p.Trp873=
NM_001165963.1:c.2618G= NP_001159435.1:p.Trp873=
NM_001165963.2:c.2618G= NP_001159435.1:p.Trp873=
NM_001165963.3:c.2618G= NP_001159435.1:p.Trp873=
NM_001165964.1:c.2534G= NP_001159436.1:p.Trp845=
NM_001165964.2:c.2534G= NP_001159436.1:p.Trp845=
NM_001165964.3:c.2534G= NP_001159436.1:p.Trp845=
NM_001202435.1:c.2618G= NP_001189364.1:p.Trp873=
NM_001202435.2:c.2618G= NP_001189364.1:p.Trp873=
NM_001202435.3:c.2618G= NP_001189364.1:p.Trp873=
NM_001353948.1:c.2618G= NP_001340877.1:p.Trp873=
NM_001353948.2:c.2618G= NP_001340877.1:p.Trp873=
NM_001353949.1:c.2585G= NP_001340878.1:p.Trp862=
NM_001353949.2:c.2585G= NP_001340878.1:p.Trp862=
NM_001353950.1:c.2585G= NP_001340879.1:p.Trp862=
NM_001353950.2:c.2585G= NP_001340879.1:p.Trp862=
NM_001353951.1:c.2585G= NP_001340880.1:p.Trp862=
NM_001353951.2:c.2585G= NP_001340880.1:p.Trp862=
NM_001353952.1:c.2585G= NP_001340881.1:p.Trp862=
NM_001353952.2:c.2585G= NP_001340881.1:p.Trp862=
NM_001353954.1:c.2582G= NP_001340883.1:p.Trp861=
NM_001353954.2:c.2582G= NP_001340883.1:p.Trp861=
NM_001353955.1:c.2582G= NP_001340884.1:p.Trp861=
NM_001353955.2:c.2582G= NP_001340884.1:p.Trp861=
NM_001353957.1:c.2534G= NP_001340886.1:p.Trp845=
NM_001353957.2:c.2534G= NP_001340886.1:p.Trp845=
NM_001353958.1:c.2534G= NP_001340887.1:p.Trp845=
NM_001353958.2:c.2534G= NP_001340887.1:p.Trp845=
NM_001353960.1:c.2531G= NP_001340889.1:p.Trp844=
NM_001353960.2:c.2531G= NP_001340889.1:p.Trp844=
NM_001353961.1:c.176G= NP_001340890.1:p.Trp59=
NM_001353961.2:c.176G= NP_001340890.1:p.Trp59=
NM_006920.4:c.2585G= , LRG_8t1:c.2585G= NP_008851.3:p.Trp862=
NM_006920.5:c.2585G= NP_008851.3:p.Trp862=
NM_006920.6:c.2585G= NP_008851.3:p.Trp862=
NR_148667.1:n.2990G=
NR_148667.2:n.2971G=
ENST00000303395.8:c.2618G= ENSP00000303540.4:p.Trp873=
ENST00000303395.9:c.2618G= ENSP00000303540.4:p.Trp873=
ENST00000375405.7:c.2585G= ENSP00000364554.3:p.Trp862=
ENST00000409050.1:c.2534G= ENSP00000386312.1:p.Trp845=
ENST00000423058.6:c.2618G= ENSP00000407030.2:p.Trp873=
ENST00000635750.1:c.2585G= ENSP00000490799.1:p.Trp862=
ENST00000635776.1:c.2585G= ENSP00000490692.1:p.Trp862=
ENST00000636194.1:c.*111G= ENSP00000490288.1:n.*111G=
ENST00000636759.1:c.*2408G= ENSP00000490895.1:n.*2408G=
ENST00000637968.1:n.2870G=
ENST00000637988.1:c.2585G= ENSP00000490780.1:p.Trp862=
ENST00000640036.1:c.2585G= ENSP00000491573.1:p.Trp862=
ENST00000641575.1:c.2582G= ENSP00000492917.1:p.Trp861=
ENST00000641603.1:c.2618G= ENSP00000492945.1:p.Trp873=
ENST00000641996.1:c.*2172G= ENSP00000493054.1:n.*2172G=
ENST00000671940.1:c.*561G= ENSP00000500336.1:n.*561G=
ENST00000673490.1:n.5091G=
ENST00000689288.1:c.*654G= ENSP00000509637.1:n.*654G=
XM_011511598.1:c.2618G= XP_011509900.1:p.Trp873=
XM_011511599.1:c.2618G= XP_011509901.1:p.Trp873=
XM_011511600.1:c.2618G= XP_011509902.1:p.Trp873=
XM_011511601.1:c.2618G= XP_011509903.1:p.Trp873=
XM_011511602.1:c.2618G= XP_011509904.1:p.Trp873=
XM_011511603.1:c.2615G= XP_011509905.1:p.Trp872=
XM_011511604.1:c.2585G= XP_011509906.1:p.Trp862=
XM_011511605.1:c.2582G= XP_011509907.1:p.Trp861=
XM_011511606.1:c.2534G= XP_011509908.1:p.Trp845=
XM_011511607.1:c.2618G= XP_011509909.1:p.Trp873=
XR_001738883.1:n.3004G=
XR_001738884.1:n.2976G=
XR_922981.1:n.2802G=