Linked Data
ClinVar Variation Id:
2525832
ClinVar RCV Id:
RCV004304563
dbSNP Id:
rs748885819
ExAC:
1:41483692 C / T
gnomAD v2:
1-41483692-C-T
gnomAD v3:
1-41018020-C-T
gnomAD v4:
1-41018020-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.41018020C>T , CM000663.2:g.41018020C>T | GRCh38 |
| NC_000001.10:g.41483692C>T , CM000663.1:g.41483692C>T | GRCh37 |
| NC_000001.9:g.41256279C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302946.13:c.572G>A (SLFNL1) MANE Select | ENSP00000304401.8:p.Arg191Gln | |
| ENST00000693284.1:c.563G>A (SLFNL1) | ENSP00000509946.1:p.Arg188Gln | |
| ENST00000302946.12:c.572G>A (SLFNL1) | ENSP00000304401.8:p.Arg191Gln | |
| ENST00000359345.5:c.572G>A (SLFNL1) | ENSP00000352299.1:p.Arg191Gln | |
| ENST00000372611.5:c.436-41G>A (SLFNL1) | ENSP00000361694.1:n.436-41G>A | |
| ENST00000372613.6:c.572G>A (SLFNL1) | ENSP00000361696.2:p.Arg191Gln | |
| ENST00000439569.2:c.572G>A (SLFNL1) | ENSP00000398938.2:p.Arg191Gln | |
| NM_001168247.2:c.572G>A (SLFNL1) | NP_001161719.1:p.Arg191Gln | |
| NM_001300859.1:c.436-41G>A (SLFNL1) | NP_001287788.1:n.436-41G>A | |
| NM_144990.3:c.572G>A (SLFNL1) | NP_659427.3:p.Arg191Gln | |
| NR_037868.1:n.3431C>T (SLFNL1-AS1) | ||
| XM_005270596.2:c.572G>A (SLFNL1) | XP_005270653.1:p.Arg191Gln | |
| XM_005270597.2:c.572G>A (SLFNL1) | XP_005270654.1:p.Arg191Gln | |
| XM_005270598.2:c.572G>A (SLFNL1) | XP_005270655.1:p.Arg191Gln | |
| XM_005270599.2:c.572G>A (SLFNL1) | XP_005270656.1:p.Arg191Gln | |
| XM_005270600.2:c.572G>A (SLFNL1) | XP_005270657.1:p.Arg191Gln | |
| XM_005270601.2:c.436-41G>A (SLFNL1) | XP_005270658.1:n.436-41G>A | |
| XM_006710432.2:c.572G>A (SLFNL1) | XP_006710495.1:p.Arg191Gln | |
| XM_011540943.1:c.572G>A (SLFNL1) | XP_011539245.1:p.Arg191Gln | |
| XM_011540944.1:c.572G>A (SLFNL1) | XP_011539246.1:p.Arg191Gln | |
| XM_011540945.1:c.572G>A (SLFNL1) | XP_011539247.1:p.Arg191Gln | |
| XM_011540946.1:c.572G>A (SLFNL1) | XP_011539248.1:p.Arg191Gln | |
| XM_011540947.1:c.572G>A (SLFNL1) | XP_011539249.1:p.Arg191Gln | |
| XM_011540948.1:c.572G>A (SLFNL1) | XP_011539250.1:p.Arg191Gln | |
| XM_011540949.1:c.572G>A (SLFNL1) | XP_011539251.1:p.Arg191Gln | |
| XM_011540950.1:c.572G>A (SLFNL1) | XP_011539252.1:p.Arg191Gln | |
| XM_011540951.1:c.572G>A (SLFNL1) | XP_011539253.1:p.Arg191Gln | |
| XM_011540952.1:c.572G>A (SLFNL1) | XP_011539254.1:p.Arg191Gln | |
| XM_011540953.1:c.572G>A (SLFNL1) | XP_011539255.1:p.Arg191Gln | |
| XM_011540954.1:c.572G>A (SLFNL1) | XP_011539256.1:p.Arg191Gln | |
| XM_011540955.1:c.436-44G>A (SLFNL1) | XP_011539257.1:n.436-44G>A | |
| XM_006710432.4:c.572G>A (SLFNL1) | XP_006710495.1:p.Arg191Gln | |
| XM_011540945.2:c.572G>A (SLFNL1) | XP_011539247.1:p.Arg191Gln | |
| XM_011540948.2:c.572G>A (SLFNL1) | XP_011539250.1:p.Arg191Gln | |
| XM_011540949.2:c.572G>A (SLFNL1) | XP_011539251.1:p.Arg191Gln | |
| XM_011540952.2:c.572G>A (SLFNL1) | XP_011539254.1:p.Arg191Gln | |
| XM_011540953.3:c.572G>A (SLFNL1) | XP_011539255.1:p.Arg191Gln | |
| XM_024453868.1:c.572G>A (SLFNL1) | XP_024309636.1:p.Arg191Gln | |
| XM_024453869.1:c.436-44G>A (SLFNL1) | XP_024309637.1:n.436-44G>A | |
| NM_001300859.2:c.436-41G>A (SLFNL1) | NP_001287788.1:n.436-41G>A | |
| NM_144990.4:c.572G>A (SLFNL1) MANE Select | NP_659427.3:p.Arg191Gln | |
| NM_001168247.3:c.572G>A (SLFNL1) | NP_001161719.1:p.Arg191Gln | |
| NM_001377532.1:c.572G>A (SLFNL1) | NP_001364461.1:p.Arg191Gln | |
| NM_001394331.1:c.572G>A (SLFNL1) | NP_001381260.1:p.Arg191Gln |