Canonical Allele Identifier: CA209307
Gene: SCN9A HGNC NCBI

Linked Data

ClinVar Variation Id: 212137
dbSNP Id: rs779536952

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166228749T>C , CM000664.2:g.166228749T>C GRCh38
NC_000002.11:g.167085259T>C , CM000664.1:g.167085259T>C GRCh37
NC_000002.10:g.166793505T>C NCBI36
NG_012798.1:g.152239A>G , LRG_369:g.152239A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000303354.11:c.4148A>G ENSP00000304748.7:p.Lys1383Arg
ENST00000409435.6:n.4148A>G ENSP00000386330.2:p.Lys1383Arg
ENST00000642356.2:c.4148A>G MANE Select ENSP00000495601.1:p.Lys1383Arg
ENST00000644316.1:n.3992A>G ENSP00000493939.1:p.Lys1331Arg
ENST00000645907.1:c.4115A>G ENSP00000495983.1:p.Lys1372Arg
ENST00000303354.10:c.4148A>G ENSP00000304748.7:p.Lys1383Arg
ENST00000409435.5:n.4148A>G ENSP00000386330.1:p.Lys1383Arg
ENST00000409672.5:c.4115A>G ENSP00000386306.1:p.Lys1372Arg
NM_002977.3:c.4115A>G , LRG_369t1:c.4115A>G NP_002968.1:p.Lys1372Arg
NR_110260.1:n.612-19446T>C
XM_005246757.1:c.4148A>G XP_005246814.1:p.Lys1383Arg
XM_011511616.1:c.4148A>G XP_011509918.1:p.Lys1383Arg
XM_011511617.1:c.4148A>G XP_011509919.1:p.Lys1383Arg
XM_011511618.1:c.4115A>G XP_011509920.1:p.Lys1372Arg
XM_011511619.1:c.4148A>G XP_011509921.1:p.Lys1383Arg
NM_001365536.1:c.4148A>G MANE Select NP_001352465.1:p.Lys1383Arg
XM_011511616.3:c.4148A>G XP_011509918.1:p.Lys1383Arg
XM_011511617.2:c.4148A>G XP_011509919.1:p.Lys1383Arg
XM_011511618.2:c.4115A>G XP_011509920.1:p.Lys1372Arg
XM_011511619.2:c.4148A>G XP_011509921.1:p.Lys1383Arg
XM_017004668.1:c.3761A>G XP_016860157.1:p.Lys1254Arg
XM_017004669.1:c.3404A>G XP_016860158.1:p.Lys1135Arg