Canonical Allele Identifier: CA1304976484
Gene: SCN9A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166303252C= , CM000664.2:g.166303252C= GRCh38
NC_000002.11:g.167159762C= , CM000664.1:g.167159762C= GRCh37
NC_000002.10:g.166868008C= NCBI36
NG_012798.1:g.77736G= , LRG_369:g.77736G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000303354.11:c.739G= ENSP00000304748.7:p.Asp247=
ENST00000409435.6:c.739G= ENSP00000386330.2:p.Asp247=
ENST00000452182.2:c.739G= ENSP00000393141.2:p.Asp247=
ENST00000454569.6:c.739G= ENSP00000413212.2:p.Asp247=
ENST00000472119.2:n.1094G=
ENST00000642356.2:c.739G= MANE Select ENSP00000495601.1:p.Asp247=
ENST00000644316.1:c.739G= ENSP00000493939.1:p.Asp247=
ENST00000645815.1:n.110G=
ENST00000645907.1:c.739G= ENSP00000495983.1:p.Asp247=
ENST00000303354.10:c.739G= ENSP00000304748.7:p.Asp247=
ENST00000409435.5:c.739G= ENSP00000386330.1:p.Asp247=
ENST00000409672.5:c.739G= ENSP00000386306.1:p.Asp247=
ENST00000452182.1:c.334G= ENSP00000393141.1:p.Asp112=
ENST00000454569.5:c.334G= ENSP00000413212.1:p.Asp112=
ENST00000472119.1:n.272G=
NM_002977.3:c.739G= , LRG_369t1:c.739G= NP_002968.1:p.Asp247=
XM_005246757.1:c.739G= XP_005246814.1:p.Asp247=
XM_011511616.1:c.739G= XP_011509918.1:p.Asp247=
XM_011511617.1:c.739G= XP_011509919.1:p.Asp247=
XM_011511618.1:c.739G= XP_011509920.1:p.Asp247=
XM_011511619.1:c.739G= XP_011509921.1:p.Asp247=
NM_001365536.1:c.739G= MANE Select NP_001352465.1:p.Asp247=
XM_011511616.3:c.739G= XP_011509918.1:p.Asp247=
XM_011511617.2:c.739G= XP_011509919.1:p.Asp247=
XM_011511618.2:c.739G= XP_011509920.1:p.Asp247=
XM_011511619.2:c.739G= XP_011509921.1:p.Asp247=
XM_017004668.1:c.352G= XP_016860157.1:p.Asp118=
XM_017004669.1:c.-6G= XP_016860158.1:n.-6G=
XR_001738886.1:n.1053G=