Canonical Allele Identifier: CA1304976892
Gene: SCN9A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166304182C= , CM000664.2:g.166304182C= GRCh38
NC_000002.11:g.167160692C= , CM000664.1:g.167160692C= GRCh37
NC_000002.10:g.166868938C= NCBI36
NG_012798.1:g.76806G= , LRG_369:g.76806G=

Transcript Alleles

HGVS Amino-acid change
ENST00000303354.11:c.688+56G= ENSP00000304748.7:n.688+56G=
ENST00000409435.6:c.597-60G= ENSP00000386330.2:n.597-60G=
ENST00000452182.2:c.688+56G= ENSP00000393141.2:n.688+56G=
ENST00000454569.6:c.688+56G= ENSP00000413212.2:n.688+56G=
ENST00000472119.2:n.1043+56G=
ENST00000642356.2:c.688+56G= MANE Select ENSP00000495601.1:n.688+56G=
ENST00000644316.1:c.597-60G= ENSP00000493939.1:n.597-60G=
ENST00000645907.1:c.597-60G= ENSP00000495983.1:n.597-60G=
ENST00000303354.10:c.688+56G= ENSP00000304748.7:n.688+56G=
ENST00000409435.5:c.688+56G= ENSP00000386330.1:n.688+56G=
ENST00000409672.5:c.688+56G= ENSP00000386306.1:n.688+56G=
ENST00000452182.1:c.192-60G= ENSP00000393141.1:n.192-60G=
ENST00000454569.5:c.192-60G= ENSP00000413212.1:n.192-60G=
ENST00000472119.1:n.221+56G=
NM_002977.3:c.688+56G= , LRG_369t1:c.688+56G= NP_002968.1:n.688+56G=
XM_005246757.1:c.688+56G= XP_005246814.1:n.688+56G=
XM_011511616.1:c.688+56G= XP_011509918.1:n.688+56G=
XM_011511617.1:c.597-60G= XP_011509919.1:n.597-60G=
XM_011511618.1:c.597-60G= XP_011509920.1:n.597-60G=
XM_011511619.1:c.688+56G= XP_011509921.1:n.688+56G=
NM_001365536.1:c.688+56G= MANE Select NP_001352465.1:n.688+56G=
XM_011511616.3:c.688+56G= XP_011509918.1:n.688+56G=
XM_011511617.2:c.597-60G= XP_011509919.1:n.597-60G=
XM_011511618.2:c.597-60G= XP_011509920.1:n.597-60G=
XM_011511619.2:c.688+56G= XP_011509921.1:n.688+56G=
XM_017004668.1:c.301+56G= XP_016860157.1:n.301+56G=
XM_017004669.1:c.-56-880G= XP_016860158.1:n.-56-880G=
XR_001738886.1:n.1002+56G=