gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39761824 (NFE)
Genomes Max Group AF
0.39760157 (NFE)
Exomes Max Group AF
0.17768 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166298928T>G , CM000664.2:g.166298928T>G | GRCh38 |
| NC_000002.11:g.167155438T>G , CM000664.1:g.167155438T>G | GRCh37 |
| NC_000002.10:g.166863684T>G | NCBI36 |
| NG_012798.1:g.82060A>C , LRG_369:g.82060A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.901+4162A>C (SCN9A) | ENSP00000304748.7:n.901+4162A>C | |
| ENST00000409435.6:c.901+4162A>C (SCN9A) | ENSP00000386330.2:n.901+4162A>C | |
| ENST00000452182.2:c.901+4162A>C (SCN9A) | ENSP00000393141.2:n.901+4162A>C | |
| ENST00000454569.6:c.901+4162A>C (SCN9A) | ENSP00000413212.2:n.901+4162A>C | |
| ENST00000642356.2:c.901+4162A>C (SCN9A) MANE Select | ENSP00000495601.1:n.901+4162A>C | |
| ENST00000644316.1:c.901+4162A>C (SCN9A) | ENSP00000493939.1:n.901+4162A>C | |
| ENST00000645907.1:c.901+4162A>C (SCN9A) | ENSP00000495983.1:n.901+4162A>C | |
| ENST00000303354.10:c.901+4162A>C (SCN9A) | ENSP00000304748.7:n.901+4162A>C | |
| ENST00000409435.5:c.901+4162A>C (SCN9A) | ENSP00000386330.1:n.901+4162A>C | |
| ENST00000409672.5:c.901+4162A>C (SCN9A) | ENSP00000386306.1:n.901+4162A>C | |
| ENST00000452182.1:c.496+4162A>C (SCN9A) | ENSP00000393141.1:n.496+4162A>C | |
| ENST00000454569.5:c.496+4162A>C (SCN9A) | ENSP00000413212.1:n.496+4162A>C | |
| NM_002977.3:c.901+4162A>C , LRG_369t1:c.901+4162A>C (SCN9A) | NP_002968.1:n.901+4162A>C | |
| NR_110260.1:n.1451+87T>G (SCN1A-AS1) | ||
| XM_005246757.1:c.901+4162A>C (SCN9A) | XP_005246814.1:n.901+4162A>C | |
| XM_011511616.1:c.901+4162A>C (SCN9A) | XP_011509918.1:n.901+4162A>C | |
| XM_011511617.1:c.901+4162A>C (SCN9A) | XP_011509919.1:n.901+4162A>C | |
| XM_011511618.1:c.901+4162A>C (SCN9A) | XP_011509920.1:n.901+4162A>C | |
| XM_011511619.1:c.901+4162A>C (SCN9A) | XP_011509921.1:n.901+4162A>C | |
| NM_001365536.1:c.901+4162A>C (SCN9A) MANE Select | NP_001352465.1:n.901+4162A>C | |
| XM_011511616.3:c.901+4162A>C (SCN9A) | XP_011509918.1:n.901+4162A>C | |
| XM_011511617.2:c.901+4162A>C (SCN9A) | XP_011509919.1:n.901+4162A>C | |
| XM_011511618.2:c.901+4162A>C (SCN9A) | XP_011509920.1:n.901+4162A>C | |
| XM_011511619.2:c.901+4162A>C (SCN9A) | XP_011509921.1:n.901+4162A>C | |
| XM_017004668.1:c.514+4162A>C (SCN9A) | XP_016860157.1:n.514+4162A>C | |
| XM_017004669.1:c.157+4162A>C (SCN9A) | XP_016860158.1:n.157+4162A>C | |
| XR_001738886.1:n.1215+4162A>C (SCN9A) |