ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00041994 (NFE)
Genomes Max Group AF
0.00025997 (AMR)
Exomes Max Group AF
0.00042691 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.41017829C>T , CM000663.2:g.41017829C>T | GRCh38 |
| NC_000001.10:g.41483501C>T , CM000663.1:g.41483501C>T | GRCh37 |
| NC_000001.9:g.41256088C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302946.13:c.763G>A (SLFNL1) MANE Select | ENSP00000304401.8:p.Gly255Ser | |
| ENST00000693284.1:c.754G>A (SLFNL1) | ENSP00000509946.1:p.Gly252Ser | |
| ENST00000302946.12:c.763G>A (SLFNL1) | ENSP00000304401.8:p.Gly255Ser | |
| ENST00000359345.5:c.763G>A (SLFNL1) | ENSP00000352299.1:p.Gly255Ser | |
| ENST00000372611.5:c.586G>A (SLFNL1) | ENSP00000361694.1:p.Gly196Ser | |
| ENST00000372613.6:c.763G>A (SLFNL1) | ENSP00000361696.2:p.Gly255Ser | |
| ENST00000439569.2:c.763G>A (SLFNL1) | ENSP00000398938.2:p.Gly255Ser | |
| NM_001168247.2:c.763G>A (SLFNL1) | NP_001161719.1:p.Gly255Ser | |
| NM_001300859.1:c.586G>A (SLFNL1) | NP_001287788.1:p.Gly196Ser | |
| NM_144990.3:c.763G>A (SLFNL1) | NP_659427.3:p.Gly255Ser | |
| NR_037868.1:n.3240C>T (SLFNL1-AS1) | ||
| XM_005270596.2:c.763G>A (SLFNL1) | XP_005270653.1:p.Gly255Ser | |
| XM_005270597.2:c.763G>A (SLFNL1) | XP_005270654.1:p.Gly255Ser | |
| XM_005270598.2:c.763G>A (SLFNL1) | XP_005270655.1:p.Gly255Ser | |
| XM_005270599.2:c.763G>A (SLFNL1) | XP_005270656.1:p.Gly255Ser | |
| XM_005270600.2:c.763G>A (SLFNL1) | XP_005270657.1:p.Gly255Ser | |
| XM_005270601.2:c.586G>A (SLFNL1) | XP_005270658.1:p.Gly196Ser | |
| XM_006710432.2:c.763G>A (SLFNL1) | XP_006710495.1:p.Gly255Ser | |
| XM_011540943.1:c.763G>A (SLFNL1) | XP_011539245.1:p.Gly255Ser | |
| XM_011540944.1:c.763G>A (SLFNL1) | XP_011539246.1:p.Gly255Ser | |
| XM_011540945.1:c.763G>A (SLFNL1) | XP_011539247.1:p.Gly255Ser | |
| XM_011540946.1:c.763G>A (SLFNL1) | XP_011539248.1:p.Gly255Ser | |
| XM_011540947.1:c.763G>A (SLFNL1) | XP_011539249.1:p.Gly255Ser | |
| XM_011540948.1:c.763G>A (SLFNL1) | XP_011539250.1:p.Gly255Ser | |
| XM_011540949.1:c.763G>A (SLFNL1) | XP_011539251.1:p.Gly255Ser | |
| XM_011540950.1:c.763G>A (SLFNL1) | XP_011539252.1:p.Gly255Ser | |
| XM_011540951.1:c.763G>A (SLFNL1) | XP_011539253.1:p.Gly255Ser | |
| XM_011540952.1:c.763G>A (SLFNL1) | XP_011539254.1:p.Gly255Ser | |
| XM_011540953.1:c.763G>A (SLFNL1) | XP_011539255.1:p.Gly255Ser | |
| XM_011540954.1:c.763G>A (SLFNL1) | XP_011539256.1:p.Gly255Ser | |
| XM_011540955.1:c.583G>A (SLFNL1) | XP_011539257.1:p.Gly195Ser | |
| XM_006710432.4:c.763G>A (SLFNL1) | XP_006710495.1:p.Gly255Ser | |
| XM_011540945.2:c.763G>A (SLFNL1) | XP_011539247.1:p.Gly255Ser | |
| XM_011540948.2:c.763G>A (SLFNL1) | XP_011539250.1:p.Gly255Ser | |
| XM_011540949.2:c.763G>A (SLFNL1) | XP_011539251.1:p.Gly255Ser | |
| XM_011540952.2:c.763G>A (SLFNL1) | XP_011539254.1:p.Gly255Ser | |
| XM_011540953.3:c.763G>A (SLFNL1) | XP_011539255.1:p.Gly255Ser | |
| XM_024453868.1:c.763G>A (SLFNL1) | XP_024309636.1:p.Gly255Ser | |
| XM_024453869.1:c.583G>A (SLFNL1) | XP_024309637.1:p.Gly195Ser | |
| NM_001300859.2:c.586G>A (SLFNL1) | NP_001287788.1:p.Gly196Ser | |
| NM_144990.4:c.763G>A (SLFNL1) MANE Select | NP_659427.3:p.Gly255Ser | |
| NM_001168247.3:c.763G>A (SLFNL1) | NP_001161719.1:p.Gly255Ser | |
| NM_001377532.1:c.763G>A (SLFNL1) | NP_001364461.1:p.Gly255Ser | |
| NM_001394331.1:c.763G>A (SLFNL1) | NP_001381260.1:p.Gly255Ser |