Canonical Allele Identifier: CA349058123
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1292433962

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166204364G>A , CM000664.2:g.166204364G>A GRCh38
NC_000002.11:g.167060874G>A , CM000664.1:g.167060874G>A GRCh37
NC_000002.10:g.166769120G>A NCBI36
NG_012798.1:g.176624C>T , LRG_369:g.176624C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303354.11:c.4499C>T (SCN9A) ENSP00000304748.7:p.Pro1500Leu
ENST00000409435.6:c.4499C>T (SCN9A) ENSP00000386330.2:p.Pro1500Leu
ENST00000642356.2:c.4499C>T (SCN9A) MANE Select ENSP00000495601.1:p.Pro1500Leu
ENST00000644316.1:c.4343C>T (SCN9A) ENSP00000493939.1:p.Pro1448Leu
ENST00000645907.1:c.4466C>T (SCN9A) ENSP00000495983.1:p.Pro1489Leu
ENST00000646694.1:n.876C>T (SCN9A)
ENST00000303354.10:c.4499C>T (SCN9A) ENSP00000304748.7:p.Pro1500Leu
ENST00000409435.5:c.4499C>T (SCN9A) ENSP00000386330.1:p.Pro1500Leu
ENST00000409672.5:c.4466C>T (SCN9A) ENSP00000386306.1:p.Pro1489Leu
NM_002977.3:c.4466C>T , LRG_369t1:c.4466C>T (SCN9A) NP_002968.1:p.Pro1489Leu
NR_110260.1:n.611+4546G>A (SCN1A-AS1)
XM_005246757.1:c.4499C>T (SCN9A) XP_005246814.1:p.Pro1500Leu
XM_011511616.1:c.4499C>T (SCN9A) XP_011509918.1:p.Pro1500Leu
XM_011511617.1:c.4499C>T (SCN9A) XP_011509919.1:p.Pro1500Leu
XM_011511618.1:c.4466C>T (SCN9A) XP_011509920.1:p.Pro1489Leu
XM_011511619.1:c.4499C>T (SCN9A) XP_011509921.1:p.Pro1500Leu
NM_001365536.1:c.4499C>T (SCN9A) MANE Select NP_001352465.1:p.Pro1500Leu
XM_011511616.3:c.4499C>T (SCN9A) XP_011509918.1:p.Pro1500Leu
XM_011511617.2:c.4499C>T (SCN9A) XP_011509919.1:p.Pro1500Leu
XM_011511618.2:c.4466C>T (SCN9A) XP_011509920.1:p.Pro1489Leu
XM_011511619.2:c.4499C>T (SCN9A) XP_011509921.1:p.Pro1500Leu
XM_017004668.1:c.4112C>T (SCN9A) XP_016860157.1:p.Pro1371Leu
XM_017004669.1:c.3755C>T (SCN9A) XP_016860158.1:p.Pro1252Leu