Canonical Allele Identifier: CA171007
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 157597
dbSNP Id: rs182650126

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166280452T>C , CM000664.2:g.166280452T>C GRCh38
NC_000002.11:g.167136962T>C , CM000664.1:g.167136962T>C GRCh37
NC_000002.10:g.166845208T>C NCBI36
NG_012798.1:g.100536A>G , LRG_369:g.100536A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000303354.11:c.2248A>G ENSP00000304748.7:p.Ile750Val
ENST00000409435.6:n.2248A>G ENSP00000386330.2:p.Ile750Val
ENST00000454569.6:c.2215A>G ENSP00000413212.2:p.Ile739Val
ENST00000642356.2:c.2248A>G (SCN9A) MANE Select ENSP00000495601.1:p.Ile750Val
ENST00000644316.1:n.2215A>G ENSP00000493939.1:p.Ile739Val
ENST00000645907.1:c.2215A>G ENSP00000495983.1:p.Ile739Val
ENST00000667201.2:n.1250A>G
ENST00000303354.10:c.2248A>G ENSP00000304748.7:p.Ile750Val
ENST00000409435.5:n.2248A>G ENSP00000386330.1:p.Ile750Val
ENST00000409672.5:c.2215A>G ENSP00000386306.1:p.Ile739Val
NM_002977.3:c.2215A>G , LRG_369t1:c.2215A>G (SCN9A) NP_002968.1:p.Ile739Val
NR_110260.1:n.1029+3205T>C (SCN1A-AS1)
XM_005246757.1:c.2248A>G (SCN9A) XP_005246814.1:p.Ile750Val
XM_011511616.1:c.2248A>G (SCN9A) XP_011509918.1:p.Ile750Val
XM_011511617.1:c.2248A>G (SCN9A) XP_011509919.1:p.Ile750Val
XM_011511618.1:c.2215A>G (SCN9A) XP_011509920.1:p.Ile739Val
XM_011511619.1:c.2248A>G (SCN9A) XP_011509921.1:p.Ile750Val
NM_001365536.1:c.2248A>G (SCN9A) MANE Select NP_001352465.1:p.Ile750Val
XM_011511616.3:c.2248A>G (SCN9A) XP_011509918.1:p.Ile750Val
XM_011511617.2:c.2248A>G (SCN9A) XP_011509919.1:p.Ile750Val
XM_011511618.2:c.2215A>G (SCN9A) XP_011509920.1:p.Ile739Val
XM_011511619.2:c.2248A>G (SCN9A) XP_011509921.1:p.Ile750Val
XM_017004668.1:c.1861A>G (SCN9A) XP_016860157.1:p.Ile621Val
XM_017004669.1:c.1504A>G (SCN9A) XP_016860158.1:p.Ile502Val
XR_001738886.1:n.2562A>G (SCN9A)