Canonical Allele Identifier: CA340545
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 6350
dbSNP Id: rs80356474

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166277281A>G , CM000664.2:g.166277281A>G GRCh38
NC_000002.11:g.167133791A>G , CM000664.1:g.167133791A>G GRCh37
NC_000002.10:g.166842037A>G NCBI36
NG_012798.1:g.103707T>C , LRG_369:g.103707T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000303354.11:c.2576T>C ENSP00000304748.7:p.Ile859Thr
ENST00000409435.6:n.2576T>C ENSP00000386330.2:p.Ile859Thr
ENST00000642356.2:c.2576T>C (SCN9A) MANE Select ENSP00000495601.1:p.Ile859Thr
ENST00000644316.1:n.2543T>C ENSP00000493939.1:p.Ile848Thr
ENST00000645283.1:n.233T>C ENSP00000496086.1:p.Ile78Thr
ENST00000645907.1:c.2543T>C ENSP00000495983.1:p.Ile848Thr
ENST00000667201.2:n.1578T>C
ENST00000303354.10:c.2576T>C ENSP00000304748.7:p.Ile859Thr
ENST00000409435.5:n.2576T>C ENSP00000386330.1:p.Ile859Thr
ENST00000409672.5:c.2543T>C ENSP00000386306.1:p.Ile848Thr
NM_002977.3:c.2543T>C , LRG_369t1:c.2543T>C (SCN9A) NP_002968.1:p.Ile848Thr
NR_110260.1:n.1029+34A>G (SCN1A-AS1)
XM_005246757.1:c.2576T>C (SCN9A) XP_005246814.1:p.Ile859Thr
XM_011511616.1:c.2576T>C (SCN9A) XP_011509918.1:p.Ile859Thr
XM_011511617.1:c.2576T>C (SCN9A) XP_011509919.1:p.Ile859Thr
XM_011511618.1:c.2543T>C (SCN9A) XP_011509920.1:p.Ile848Thr
XM_011511619.1:c.2576T>C (SCN9A) XP_011509921.1:p.Ile859Thr
NM_001365536.1:c.2576T>C (SCN9A) MANE Select NP_001352465.1:p.Ile859Thr
XM_011511616.3:c.2576T>C (SCN9A) XP_011509918.1:p.Ile859Thr
XM_011511617.2:c.2576T>C (SCN9A) XP_011509919.1:p.Ile859Thr
XM_011511618.2:c.2543T>C (SCN9A) XP_011509920.1:p.Ile848Thr
XM_011511619.2:c.2576T>C (SCN9A) XP_011509921.1:p.Ile859Thr
XM_017004668.1:c.2189T>C (SCN9A) XP_016860157.1:p.Ile730Thr
XM_017004669.1:c.1832T>C (SCN9A) XP_016860158.1:p.Ile611Thr
XR_001738886.1:n.2890T>C (SCN9A)