Linked Data
ClinVar Variation Id:
37101
ClinVar RCV Id:
RCV000030748
dbSNP Id:
rs387907280
PubMed:
PMID:22772369
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.30930564G>C , CM000677.2:g.30930564G>C | GRCh38 |
| NC_000015.9:g.31222767G>C , CM000677.1:g.31222767G>C | GRCh37 |
| NC_000015.8:g.29010059G>C | NCBI36 |
| NG_032946.1:g.31713G>C | |
| NG_032946.2:g.31713G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362065.9:c.2809G>C (FAN1) MANE Select | ENSP00000354497.4:p.Gly937Arg | |
| ENST00000562881.2:n.4936G>C (FAN1) | ||
| ENST00000654056.1:c.*653G>C (FAN1) | ENSP00000499726.1:n.*653G>C | |
| ENST00000655421.1:n.6190G>C (FAN1) | ||
| ENST00000656307.1:n.5674G>C (FAN1) | ||
| ENST00000656435.1:c.2809G>C (FAN1) | ENSP00000499534.1:p.Gly937Arg | |
| ENST00000657391.1:c.2809G>C (FAN1) | ENSP00000499703.1:p.Gly937Arg | |
| ENST00000661974.1:c.4714G>C (FAN1) | ||
| ENST00000664070.1:c.*2349G>C (FAN1) | ENSP00000499478.1:n.*2349G>C | |
| ENST00000664837.1:c.1519G>C (FAN1) | ENSP00000499780.1:p.Gly507Arg | |
| ENST00000667837.1:n.2621G>C (FAN1) | ||
| ENST00000670074.1:c.*1551G>C (FAN1) | ENSP00000499252.1:n.*1551G>C | |
| ENST00000670849.1:c.2809G>C (FAN1) | ENSP00000499638.1:p.Gly937Arg | |
| ENST00000362065.8:c.2809G>C (FAN1) | ENSP00000354497.4:p.Gly937Arg | |
| ENST00000562881.1:n.450G>C (FAN1) | ||
| ENST00000565280.5:c.*1650G>C (FAN1) | ENSP00000455573.1:n.*1650G>C | |
| ENST00000568145.5:n.761G>C (FAN1) | ||
| NM_014967.4:c.2809G>C (FAN1) | NP_055782.3:p.Gly937Arg | |
| XM_005254232.3:c.2809G>C (FAN1) | XP_005254289.1:p.Gly937Arg | |
| XM_005254234.3:c.2809G>C (FAN1) | XP_005254291.1:p.Gly937Arg | |
| XM_005254235.3:c.2809G>C (FAN1) | XP_005254292.1:p.Gly937Arg | |
| XM_011521370.1:c.1627G>C (FAN1) | XP_011519672.1:p.Gly543Arg | |
| XM_011521371.1:c.1624G>C (FAN1) | XP_011519673.1:p.Gly542Arg | |
| XM_011521736.1:c.1549-1754C>G (MTMR10) | XP_011520038.1:n.1549-1754C>G | |
| XM_011521737.1:c.1549-10641C>G (MTMR10) | XP_011520039.1:n.1549-10641C>G | |
| XM_005254232.4:c.2809G>C (FAN1) | XP_005254289.1:p.Gly937Arg | |
| XM_005254234.5:c.2809G>C (FAN1) | XP_005254291.1:p.Gly937Arg | |
| XM_011521370.2:c.1627G>C (FAN1) | XP_011519672.1:p.Gly543Arg | |
| XM_011521737.3:c.1549-10641C>G (MTMR10) | XP_011520039.1:n.1549-10641C>G | |
| XM_017022012.2:c.1138G>C (FAN1) | XP_016877501.1:p.Gly380Arg | |
| XM_017022013.1:c.1138G>C (FAN1) | XP_016877502.1:p.Gly380Arg | |
| XM_024449874.1:c.1624G>C (FAN1) | XP_024305642.1:p.Gly542Arg | |
| XR_001751149.1:n.5053G>C (FAN1) | ||
| XR_001751151.1:n.5049G>C (FAN1) | ||
| NM_014967.5:c.2809G>C (FAN1) MANE Select | NP_055782.3:p.Gly937Arg |