Canonical Allele Identifier: CA429893545
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1405828364
MyVariant Identifiers: chr2:g.167060909C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166204399C>T , CM000664.2:g.166204399C>T GRCh38
NC_000002.11:g.167060909C>T , CM000664.1:g.167060909C>T GRCh37
NC_000002.10:g.166769155C>T NCBI36
NG_012798.1:g.176589G>A , LRG_369:g.176589G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303354.11:c.4464G>A (SCN9A) ENSP00000304748.7:p.Leu1488=
ENST00000409435.6:c.4464G>A (SCN9A) ENSP00000386330.2:p.Leu1488=
ENST00000642356.2:c.4464G>A (SCN9A) MANE Select ENSP00000495601.1:p.Leu1488=
ENST00000644316.1:c.4308G>A (SCN9A) ENSP00000493939.1:p.Leu1436=
ENST00000645907.1:c.4431G>A (SCN9A) ENSP00000495983.1:p.Leu1477=
ENST00000646694.1:n.841G>A (SCN9A)
ENST00000303354.10:c.4464G>A (SCN9A) ENSP00000304748.7:p.Leu1488=
ENST00000409435.5:c.4464G>A (SCN9A) ENSP00000386330.1:p.Leu1488=
ENST00000409672.5:c.4431G>A (SCN9A) ENSP00000386306.1:p.Leu1477=
NM_002977.3:c.4431G>A , LRG_369t1:c.4431G>A (SCN9A) NP_002968.1:p.Leu1477=
NR_110260.1:n.611+4581C>T (SCN1A-AS1)
XM_005246757.1:c.4464G>A (SCN9A) XP_005246814.1:p.Leu1488=
XM_011511616.1:c.4464G>A (SCN9A) XP_011509918.1:p.Leu1488=
XM_011511617.1:c.4464G>A (SCN9A) XP_011509919.1:p.Leu1488=
XM_011511618.1:c.4431G>A (SCN9A) XP_011509920.1:p.Leu1477=
XM_011511619.1:c.4464G>A (SCN9A) XP_011509921.1:p.Leu1488=
NM_001365536.1:c.4464G>A (SCN9A) MANE Select NP_001352465.1:p.Leu1488=
XM_011511616.3:c.4464G>A (SCN9A) XP_011509918.1:p.Leu1488=
XM_011511617.2:c.4464G>A (SCN9A) XP_011509919.1:p.Leu1488=
XM_011511618.2:c.4431G>A (SCN9A) XP_011509920.1:p.Leu1477=
XM_011511619.2:c.4464G>A (SCN9A) XP_011509921.1:p.Leu1488=
XM_017004668.1:c.4077G>A (SCN9A) XP_016860157.1:p.Leu1359=
XM_017004669.1:c.3720G>A (SCN9A) XP_016860158.1:p.Leu1240=