Canonical Allele Identifier: CA239541
Gene: SCN9A HGNC NCBI

Linked Data

ClinVar Variation Id: 193860
dbSNP Id: rs200065104

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166286612C>T , CM000664.2:g.166286612C>T GRCh38
NC_000002.11:g.167143122C>T , CM000664.1:g.167143122C>T GRCh37
NC_000002.10:g.166851368C>T NCBI36
NG_012798.1:g.94376G>A , LRG_369:g.94376G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000303354.11:c.1326G>A ENSP00000304748.7:p.Ala442=
ENST00000409435.6:n.1326G>A ENSP00000386330.2:p.Ala442=
ENST00000454569.6:c.1326G>A ENSP00000413212.2:p.Ala442=
ENST00000642356.2:c.1326G>A MANE Select ENSP00000495601.1:p.Ala442=
ENST00000644316.1:n.1326G>A ENSP00000493939.1:p.Ala442=
ENST00000645907.1:c.1326G>A ENSP00000495983.1:p.Ala442=
ENST00000667201.2:n.361G>A
ENST00000303354.10:c.1326G>A ENSP00000304748.7:p.Ala442=
ENST00000409435.5:n.1326G>A ENSP00000386330.1:p.Ala442=
ENST00000409672.5:c.1326G>A ENSP00000386306.1:p.Ala442=
ENST00000452182.1:n.921G>A ENSP00000393141.1:p.Ala307=
ENST00000454569.5:n.921G>A ENSP00000413212.1:p.Ala307=
NM_002977.3:c.1326G>A , LRG_369t1:c.1326G>A NP_002968.1:p.Ala442=
NR_110260.1:n.1030-7953C>T
XM_005246757.1:c.1326G>A XP_005246814.1:p.Ala442=
XM_011511616.1:c.1326G>A XP_011509918.1:p.Ala442=
XM_011511617.1:c.1326G>A XP_011509919.1:p.Ala442=
XM_011511618.1:c.1326G>A XP_011509920.1:p.Ala442=
XM_011511619.1:c.1326G>A XP_011509921.1:p.Ala442=
NM_001365536.1:c.1326G>A MANE Select NP_001352465.1:p.Ala442=
XM_011511616.3:c.1326G>A XP_011509918.1:p.Ala442=
XM_011511617.2:c.1326G>A XP_011509919.1:p.Ala442=
XM_011511618.2:c.1326G>A XP_011509920.1:p.Ala442=
XM_011511619.2:c.1326G>A XP_011509921.1:p.Ala442=
XM_017004668.1:c.939G>A XP_016860157.1:p.Ala313=
XM_017004669.1:c.582G>A XP_016860158.1:p.Ala194=
XR_001738886.1:n.1640G>A