Canonical Allele Identifier: CA349066417
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1553480092

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166233378T>A , CM000664.2:g.166233378T>A GRCh38
NC_000002.11:g.167089888T>A , CM000664.1:g.167089888T>A GRCh37
NC_000002.10:g.166798134T>A NCBI36
NG_012798.1:g.147610A>T , LRG_369:g.147610A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000303354.11:c.3886A>T (SCN9A) ENSP00000304748.7:p.Arg1296Ter
ENST00000409435.6:c.3886A>T (SCN9A) ENSP00000386330.2:p.Arg1296Ter
ENST00000642356.2:c.3886A>T (SCN9A) MANE Select ENSP00000495601.1:p.Arg1296Ter
ENST00000644316.1:c.3769-4406A>T (SCN9A) ENSP00000493939.1:n.3769-4406A>T
ENST00000645907.1:c.3853A>T (SCN9A) ENSP00000495983.1:p.Arg1285Ter
ENST00000303354.10:c.3886A>T (SCN9A) ENSP00000304748.7:p.Arg1296Ter
ENST00000409435.5:c.3886A>T (SCN9A) ENSP00000386330.1:p.Arg1296Ter
ENST00000409672.5:c.3853A>T (SCN9A) ENSP00000386306.1:p.Arg1285Ter
NM_002977.3:c.3853A>T , LRG_369t1:c.3853A>T (SCN9A) NP_002968.1:p.Arg1285Ter
NR_110260.1:n.612-14817T>A (SCN1A-AS1)
XM_005246757.1:c.3886A>T (SCN9A) XP_005246814.1:p.Arg1296Ter
XM_011511616.1:c.3886A>T (SCN9A) XP_011509918.1:p.Arg1296Ter
XM_011511617.1:c.3886A>T (SCN9A) XP_011509919.1:p.Arg1296Ter
XM_011511618.1:c.3853A>T (SCN9A) XP_011509920.1:p.Arg1285Ter
XM_011511619.1:c.3886A>T (SCN9A) XP_011509921.1:p.Arg1296Ter
NM_001365536.1:c.3886A>T (SCN9A) MANE Select NP_001352465.1:p.Arg1296Ter
XM_011511616.3:c.3886A>T (SCN9A) XP_011509918.1:p.Arg1296Ter
XM_011511617.2:c.3886A>T (SCN9A) XP_011509919.1:p.Arg1296Ter
XM_011511618.2:c.3853A>T (SCN9A) XP_011509920.1:p.Arg1285Ter
XM_011511619.2:c.3886A>T (SCN9A) XP_011509921.1:p.Arg1296Ter
XM_017004668.1:c.3499A>T (SCN9A) XP_016860157.1:p.Arg1167Ter
XM_017004669.1:c.3142A>T (SCN9A) XP_016860158.1:p.Arg1048Ter