Revel Score:
ENST00000409672
0.352
ENST00000375387
0.352
ENST00000303354
0.352
ENST00000409435
0.352
ENST00000454569
0.352
ENST00000452182
0.352
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001454 (SAS)
Exomes Max Group AF
0.00001614 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166286562G>A , CM000664.2:g.166286562G>A | GRCh38 |
| NC_000002.11:g.167143072G>A , CM000664.1:g.167143072G>A | GRCh37 |
| NC_000002.10:g.166851318G>A | NCBI36 |
| NG_012798.1:g.94426C>T , LRG_369:g.94426C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.1376C>T (SCN9A) | ENSP00000304748.7:p.Ser459Leu | |
| ENST00000409435.6:c.1376C>T (SCN9A) | ENSP00000386330.2:p.Ser459Leu | |
| ENST00000454569.6:c.1376C>T (SCN9A) | ENSP00000413212.2:p.Ser459Leu | |
| ENST00000642356.2:c.1376C>T (SCN9A) MANE Select | ENSP00000495601.1:p.Ser459Leu | |
| ENST00000644316.1:c.1376C>T (SCN9A) | ENSP00000493939.1:p.Ser459Leu | |
| ENST00000645907.1:c.1376C>T (SCN9A) | ENSP00000495983.1:p.Ser459Leu | |
| ENST00000667201.2:c.411C>T (SCN9A) | ||
| ENST00000303354.10:c.1376C>T (SCN9A) | ENSP00000304748.7:p.Ser459Leu | |
| ENST00000409435.5:c.1376C>T (SCN9A) | ENSP00000386330.1:p.Ser459Leu | |
| ENST00000409672.5:c.1376C>T (SCN9A) | ENSP00000386306.1:p.Ser459Leu | |
| ENST00000452182.1:c.971C>T (SCN9A) | ENSP00000393141.1:p.Ser324Leu | |
| ENST00000454569.5:c.971C>T (SCN9A) | ENSP00000413212.1:p.Ser324Leu | |
| NM_002977.3:c.1376C>T , LRG_369t1:c.1376C>T (SCN9A) | NP_002968.1:p.Ser459Leu | |
| NR_110260.1:n.1030-8003G>A (SCN1A-AS1) | ||
| XM_005246757.1:c.1376C>T (SCN9A) | XP_005246814.1:p.Ser459Leu | |
| XM_011511616.1:c.1376C>T (SCN9A) | XP_011509918.1:p.Ser459Leu | |
| XM_011511617.1:c.1376C>T (SCN9A) | XP_011509919.1:p.Ser459Leu | |
| XM_011511618.1:c.1376C>T (SCN9A) | XP_011509920.1:p.Ser459Leu | |
| XM_011511619.1:c.1376C>T (SCN9A) | XP_011509921.1:p.Ser459Leu | |
| NM_001365536.1:c.1376C>T (SCN9A) MANE Select | NP_001352465.1:p.Ser459Leu | |
| XM_011511616.3:c.1376C>T (SCN9A) | XP_011509918.1:p.Ser459Leu | |
| XM_011511617.2:c.1376C>T (SCN9A) | XP_011509919.1:p.Ser459Leu | |
| XM_011511618.2:c.1376C>T (SCN9A) | XP_011509920.1:p.Ser459Leu | |
| XM_011511619.2:c.1376C>T (SCN9A) | XP_011509921.1:p.Ser459Leu | |
| XM_017004668.1:c.989C>T (SCN9A) | XP_016860157.1:p.Ser330Leu | |
| XM_017004669.1:c.632C>T (SCN9A) | XP_016860158.1:p.Ser211Leu | |
| XR_001738886.1:n.1690C>T (SCN9A) |