Linked Data
ClinVar Variation Id:
408579
ClinVar RCV Id:
RCV000464133
dbSNP Id:
rs1060502049
gnomAD v3:
2-166198738-C-CTCTT
gnomAD v4:
2-166198738-C-CTCTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166198740_166198743dup , CM000664.2:g.166198740_166198743dup | GRCh38 |
| NC_000002.11:g.167055250_167055253dup , CM000664.1:g.167055250_167055253dup | GRCh37 |
| NC_000002.10:g.166763496_166763499dup | NCBI36 |
| NG_012798.1:g.182246_182249dup , LRG_369:g.182246_182249dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.5897_5900dup (SCN9A) | ENSP00000304748.7:p.Lys1968ArgfsTer4 | |
| ENST00000409435.6:c.5897_5900dup (SCN9A) | ENSP00000386330.2:p.Lys1968ArgfsTer4 | |
| ENST00000642356.2:c.5897_5900dup (SCN9A) MANE Select | ENSP00000495601.1:p.Lys1968ArgfsTer4 | |
| ENST00000644316.1:c.5741_5744dup (SCN9A) | ENSP00000493939.1:p.Lys1916ArgfsTer4 | |
| ENST00000645907.1:c.5864_5867dup (SCN9A) | ENSP00000495983.1:p.Lys1957ArgfsTer4 | |
| ENST00000646694.1:n.2274_2277dup (SCN9A) | ||
| ENST00000303354.10:c.5897_5900dup (SCN9A) | ENSP00000304748.7:p.Lys1968ArgfsTer4 | |
| ENST00000409435.5:c.5897_5900dup (SCN9A) | ENSP00000386330.1:p.Lys1968ArgfsTer4 | |
| ENST00000409672.5:c.5864_5867dup (SCN9A) | ENSP00000386306.1:p.Lys1957ArgfsTer4 | |
| NM_002977.3:c.5864_5867dup , LRG_369t1:c.5864_5867dup (SCN9A) | NP_002968.1:p.Lys1957ArgfsTer4 | |
| NR_110260.1:n.432-899_432-896dup (SCN1A-AS1) | ||
| XM_005246757.1:c.5897_5900dup (SCN9A) | XP_005246814.1:p.Lys1968ArgfsTer4 | |
| XM_011511616.1:c.5897_5900dup (SCN9A) | XP_011509918.1:p.Lys1968ArgfsTer4 | |
| XM_011511617.1:c.5897_5900dup (SCN9A) | XP_011509919.1:p.Lys1968ArgfsTer4 | |
| XM_011511618.1:c.5864_5867dup (SCN9A) | XP_011509920.1:p.Lys1957ArgfsTer4 | |
| NM_001365536.1:c.5897_5900dup (SCN9A) MANE Select | NP_001352465.1:p.Lys1968ArgfsTer4 | |
| XM_011511616.3:c.5897_5900dup (SCN9A) | XP_011509918.1:p.Lys1968ArgfsTer4 | |
| XM_011511617.2:c.5897_5900dup (SCN9A) | XP_011509919.1:p.Lys1968ArgfsTer4 | |
| XM_011511618.2:c.5864_5867dup (SCN9A) | XP_011509920.1:p.Lys1957ArgfsTer4 | |
| XM_017004668.1:c.5510_5513dup (SCN9A) | XP_016860157.1:p.Lys1839ArgfsTer4 | |
| XM_017004669.1:c.5153_5156dup (SCN9A) | XP_016860158.1:p.Lys1720ArgfsTer4 |