Canonical Allele Identifier: CA129149
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30357
dbSNP Id: rs200945460

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166280508A>T , CM000664.2:g.166280508A>T GRCh38
NC_000002.11:g.167137018A>T , CM000664.1:g.167137018A>T GRCh37
NC_000002.10:g.166845264A>T NCBI36
NG_012798.1:g.100480T>A , LRG_369:g.100480T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000303354.11:c.2192T>A ENSP00000304748.7:p.Ile731Lys
ENST00000409435.6:n.2192T>A ENSP00000386330.2:p.Ile731Lys
ENST00000454569.6:c.2159T>A ENSP00000413212.2:p.Ile720Lys
ENST00000642356.2:c.2192T>A (SCN9A) MANE Select ENSP00000495601.1:p.Ile731Lys
ENST00000644316.1:n.2159T>A ENSP00000493939.1:p.Ile720Lys
ENST00000645907.1:c.2159T>A ENSP00000495983.1:p.Ile720Lys
ENST00000667201.2:n.1194T>A
ENST00000303354.10:c.2192T>A ENSP00000304748.7:p.Ile731Lys
ENST00000409435.5:n.2192T>A ENSP00000386330.1:p.Ile731Lys
ENST00000409672.5:c.2159T>A ENSP00000386306.1:p.Ile720Lys
NM_002977.3:c.2159T>A , LRG_369t1:c.2159T>A (SCN9A) NP_002968.1:p.Ile720Lys
NR_110260.1:n.1029+3261A>T (SCN1A-AS1)
XM_005246757.1:c.2192T>A (SCN9A) XP_005246814.1:p.Ile731Lys
XM_011511616.1:c.2192T>A (SCN9A) XP_011509918.1:p.Ile731Lys
XM_011511617.1:c.2192T>A (SCN9A) XP_011509919.1:p.Ile731Lys
XM_011511618.1:c.2159T>A (SCN9A) XP_011509920.1:p.Ile720Lys
XM_011511619.1:c.2192T>A (SCN9A) XP_011509921.1:p.Ile731Lys
NM_001365536.1:c.2192T>A (SCN9A) MANE Select NP_001352465.1:p.Ile731Lys
XM_011511616.3:c.2192T>A (SCN9A) XP_011509918.1:p.Ile731Lys
XM_011511617.2:c.2192T>A (SCN9A) XP_011509919.1:p.Ile731Lys
XM_011511618.2:c.2159T>A (SCN9A) XP_011509920.1:p.Ile720Lys
XM_011511619.2:c.2192T>A (SCN9A) XP_011509921.1:p.Ile731Lys
XM_017004668.1:c.1805T>A (SCN9A) XP_016860157.1:p.Ile602Lys
XM_017004669.1:c.1448T>A (SCN9A) XP_016860158.1:p.Ile483Lys
XR_001738886.1:n.2506T>A (SCN9A)