Canonical Allele Identifier: CA1944040
Gene: SCN9A HGNC NCBI

Linked Data

ClinVar Variation Id: 440255
ClinVar RCV Id: RCV000506884
dbSNP Id: rs6746030

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166242648A>G , CM000664.2:g.166242648A>G GRCh38
NC_000002.11:g.167099158A>G , CM000664.1:g.167099158A>G GRCh37
NC_000002.10:g.166807404A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000303354.11:c.3481T>C ENSP00000304748.7:p.Trp1161Arg
ENST00000409435.6:n.3481T>C ENSP00000386330.2:p.Trp1161Arg
ENST00000642356.2:c.3481T>C MANE Select ENSP00000495601.1:p.Trp1161Arg
ENST00000643319.1:n.563T>C ENSP00000494071.1:p.=
ENST00000644316.1:n.3448T>C ENSP00000493939.1:p.Trp1150Arg
ENST00000645907.1:c.3448T>C ENSP00000495983.1:p.Trp1150Arg
ENST00000667201.2:n.2182T>C
ENST00000303354.10:c.3481T>C ENSP00000304748.7:p.Trp1161Arg
ENST00000409435.5:n.3481T>C ENSP00000386330.1:p.Trp1161Arg
ENST00000409672.5:c.3448T>C ENSP00000386306.1:p.Trp1150Arg
NR_110260.1:n.612-5547A>G
XM_005246757.1:c.3481T>C XP_005246814.1:p.Trp1161Arg
XM_011511616.1:c.3481T>C XP_011509918.1:p.Trp1161Arg
XM_011511617.1:c.3481T>C XP_011509919.1:p.Trp1161Arg
XM_011511618.1:c.3448T>C XP_011509920.1:p.Trp1150Arg
XM_011511619.1:c.3481T>C XP_011509921.1:p.Trp1161Arg
NM_001365536.1:c.3481T>C MANE Select NP_001352465.1:p.Trp1161Arg
XM_011511616.3:c.3481T>C XP_011509918.1:p.Trp1161Arg
XM_011511617.2:c.3481T>C XP_011509919.1:p.Trp1161Arg
XM_011511618.2:c.3448T>C XP_011509920.1:p.Trp1150Arg
XM_011511619.2:c.3481T>C XP_011509921.1:p.Trp1161Arg
XM_017004668.1:c.3094T>C XP_016860157.1:p.Trp1032Arg
XM_017004669.1:c.2737T>C XP_016860158.1:p.Trp913Arg