WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
40627
ClinVar RCV Id:
RCV000037682
RCV000149839
RCV000242861
RCV000350733
RCV000390530
RCV000756586
RCV003891457
dbSNP Id:
rs141791080
ExAC:
3:12626130 T / C
gnomAD v2:
3-12626130-T-C
gnomAD v3:
3-12584631-T-C
gnomAD v4:
3-12584631-T-C
ERepo:
CA134712/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584631T>C , CM000665.2:g.12584631T>C | GRCh38 |
| NC_000003.11:g.12626130T>C , CM000665.1:g.12626130T>C | GRCh37 |
| NC_000003.10:g.12601130T>C | NCBI36 |
| NG_007467.1:g.84549A>G , LRG_413:g.84549A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*1495A>G (RAF1) | ENSP00000401088.1:n.*1495A>G | |
| ENST00000432427.3:c.1147A>G (RAF1) | ||
| ENST00000460610.2:n.6142A>G (RAF1) | ||
| ENST00000471449.2:n.640A>G (RAF1) | ||
| ENST00000475353.2:n.4110A>G (RAF1) | ||
| ENST00000684903.1:c.*1507A>G (RAF1) | ENSP00000508612.1:n.*1507A>G | |
| ENST00000685348.1:c.*1541A>G (RAF1) | ENSP00000510285.1:n.*1541A>G | |
| ENST00000685437.1:c.1731A>G (RAF1) | ENSP00000508794.1:p.Gln577= | |
| ENST00000685653.1:c.1830A>G (RAF1) | ENSP00000509968.1:p.Gln610= | |
| ENST00000685697.1:n.2565A>G (RAF1) | ||
| ENST00000685738.1:c.*794A>G (RAF1) | ENSP00000510156.1:n.*794A>G | |
| ENST00000686409.1:n.5239A>G (RAF1) | ||
| ENST00000686455.1:n.4551A>G (RAF1) | ||
| ENST00000686762.1:c.*389A>G (RAF1) | ENSP00000509767.1:n.*389A>G | |
| ENST00000687257.1:n.4284A>G (RAF1) | ||
| ENST00000687326.1:c.*3122A>G (RAF1) | ENSP00000509665.1:n.*3122A>G | |
| ENST00000687505.1:n.1948A>G (RAF1) | ||
| ENST00000687923.1:c.1719A>G (RAF1) | ENSP00000510255.1:p.Gln573= | |
| ENST00000688269.1:n.2426A>G (RAF1) | ||
| ENST00000688444.1:n.3947A>G (RAF1) | ||
| ENST00000688543.1:c.1731A>G (RAF1) | ENSP00000509612.1:p.Gln577= | |
| ENST00000688625.1:c.*3199A>G (RAF1) | ENSP00000509522.1:n.*3199A>G | |
| ENST00000688803.1:n.3258A>G (RAF1) | ||
| ENST00000689097.1:c.*1507A>G (RAF1) | ENSP00000509756.1:n.*1507A>G | |
| ENST00000689389.1:c.1653A>G (RAF1) | ENSP00000510213.1:p.Gln551= | |
| ENST00000689418.1:c.*3725A>G (RAF1) | ENSP00000509467.1:n.*3725A>G | |
| ENST00000689540.1:n.4198A>G (RAF1) | ||
| ENST00000689876.1:c.*379A>G (RAF1) | ENSP00000508535.1:n.*379A>G | |
| ENST00000689914.1:c.*764A>G (RAF1) | ENSP00000509847.1:n.*764A>G | |
| ENST00000690397.1:c.1719A>G (RAF1) | ENSP00000508730.1:p.Gln573= | |
| ENST00000690460.1:c.1818A>G (RAF1) | ENSP00000509106.1:p.Gln606= | |
| ENST00000690585.1:c.556A>G (RAF1) | ||
| ENST00000690625.1:n.2866A>G (RAF1) | ||
| ENST00000691396.1:c.*1702A>G (RAF1) | ENSP00000510712.1:n.*1702A>G | |
| ENST00000691643.1:n.2883A>G (RAF1) | ||
| ENST00000691724.1:c.*787A>G (RAF1) | ENSP00000509255.1:n.*787A>G | |
| ENST00000691779.1:c.*1408A>G (RAF1) | ENSP00000508592.1:n.*1408A>G | |
| ENST00000691888.1:c.704A>G (RAF1) | ||
| ENST00000691899.1:c.1830A>G (RAF1) | ENSP00000508763.1:p.Gln610= | |
| ENST00000692069.1:n.4754A>G (RAF1) | ||
| ENST00000692093.1:c.1731A>G (RAF1) | ENSP00000509669.1:p.Gln577= | |
| ENST00000692311.1:n.2654A>G (RAF1) | ||
| ENST00000692558.1:n.4413A>G (RAF1) | ||
| ENST00000692773.1:c.*1567A>G (RAF1) | ENSP00000509055.1:n.*1567A>G | |
| ENST00000692830.1:c.*1575A>G (RAF1) | ENSP00000509461.1:n.*1575A>G | |
| ENST00000693312.1:c.1605A>G (RAF1) | ENSP00000508686.1:p.Gln535= | |
| ENST00000693664.1:c.*281A>G (RAF1) | ENSP00000509614.1:n.*281A>G | |
| ENST00000693705.1:c.*1209A>G (RAF1) | ENSP00000510697.1:n.*1209A>G | |
| ENST00000251849.9:c.1830A>G (RAF1) MANE Select | ENSP00000251849.4:p.Gln610= | |
| ENST00000442415.7:c.1890A>G (RAF1) | ENSP00000401888.2:p.Gln630= | |
| ENST00000676541.1:c.*2378T>C (MKRN2) | ENSP00000503730.1:n.*2378T>C | |
| ENST00000677142.1:c.*2378T>C (MKRN2) | ENSP00000504455.1:n.*2378T>C | |
| ENST00000677816.1:c.*933T>C (MKRN2) | ENSP00000502893.1:n.*933T>C | |
| ENST00000677941.1:n.2441T>C (MKRN2) | ||
| ENST00000251849.8:c.1830A>G (RAF1) | ENSP00000251849.4:p.Gln610= | |
| ENST00000423275.5:c.*1507A>G (RAF1) | ENSP00000401088.1:n.*1507A>G | |
| ENST00000432427.2:c.1467A>G (RAF1) | ENSP00000398591.2:p.Gln489= | |
| ENST00000442415.6:c.1890A>G (RAF1) | ENSP00000401888.2:p.Gln630= | |
| ENST00000471449.1:n.519A>G (RAF1) | ||
| NM_002880.3:c.1830A>G , LRG_413t1:c.1830A>G (RAF1) | NP_002871.1:p.Gln610= | |
| XM_005265355.1:c.1830A>G (RAF1) | XP_005265412.1:p.Gln610= | |
| XM_005265357.1:c.1731A>G (RAF1) | XP_005265414.1:p.Gln577= | |
| XM_005265358.3:c.1587A>G (RAF1) | XP_005265415.1:p.Gln529= | |
| XM_005265359.3:c.1488A>G (RAF1) | XP_005265416.1:p.Gln496= | |
| XM_011533974.1:c.1830A>G (RAF1) | XP_011532276.1:p.Gln610= | |
| XM_011533975.1:c.1587A>G (RAF1) | XP_011532277.1:p.Gln529= | |
| NM_001354689.1:c.1890A>G (RAF1) | NP_001341618.1:p.Gln630= | |
| NM_001354690.1:c.1830A>G (RAF1) | NP_001341619.1:p.Gln610= | |
| NM_001354691.1:c.1587A>G (RAF1) | NP_001341620.1:p.Gln529= | |
| NM_001354692.1:c.1587A>G (RAF1) | NP_001341621.1:p.Gln529= | |
| NM_001354693.1:c.1731A>G (RAF1) | NP_001341622.1:p.Gln577= | |
| NM_001354694.1:c.1647A>G (RAF1) | NP_001341623.1:p.Gln549= | |
| NM_001354695.1:c.1488A>G (RAF1) | NP_001341624.1:p.Gln496= | |
| NR_148940.1:n.2358A>G (RAF1) | ||
| NR_148941.1:n.2304A>G (RAF1) | ||
| NR_148942.1:n.2243A>G (RAF1) | ||
| XM_011533974.3:c.1830A>G (RAF1) | XP_011532276.1:p.Gln610= | |
| XM_017006966.1:c.1731A>G (RAF1) | XP_016862455.1:p.Gln577= | |
| NM_001354689.3:c.1890A>G (RAF1) | NP_001341618.1:p.Gln630= | |
| NM_001354690.2:c.1830A>G (RAF1) | NP_001341619.1:p.Gln610= | |
| NM_001354691.2:c.1587A>G (RAF1) | NP_001341620.1:p.Gln529= | |
| NM_001354692.2:c.1587A>G (RAF1) | NP_001341621.1:p.Gln529= | |
| NM_001354693.2:c.1731A>G (RAF1) | NP_001341622.1:p.Gln577= | |
| NM_001354694.2:c.1647A>G (RAF1) | NP_001341623.1:p.Gln549= | |
| NM_001354695.2:c.1488A>G (RAF1) | NP_001341624.1:p.Gln496= | |
| NR_148940.2:n.2274A>G (RAF1) | ||
| NR_148941.2:n.2220A>G (RAF1) | ||
| NR_148942.2:n.2159A>G (RAF1) | ||
| NM_001354690.3:c.1830A>G (RAF1) | NP_001341619.1:p.Gln610= | |
| NM_001354691.3:c.1587A>G (RAF1) | NP_001341620.1:p.Gln529= | |
| NM_001354692.3:c.1587A>G (RAF1) | NP_001341621.1:p.Gln529= | |
| NM_001354693.3:c.1731A>G (RAF1) | NP_001341622.1:p.Gln577= | |
| NM_001354694.3:c.1647A>G (RAF1) | NP_001341623.1:p.Gln549= | |
| NM_001354695.3:c.1488A>G (RAF1) | NP_001341624.1:p.Gln496= | |
| NM_002880.4:c.1830A>G (RAF1) MANE Select | NP_002871.1:p.Gln610= | |
| NR_148940.3:n.2274A>G (RAF1) | ||
| NR_148941.3:n.2220A>G (RAF1) | ||
| NR_148942.3:n.2159A>G (RAF1) |