gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2760752 (AFR)
Genomes Max Group AF
0.2760752 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.30923732C>T , CM000677.2:g.30923732C>T | GRCh38 |
| NC_000015.9:g.31215935C>T , CM000677.1:g.31215935C>T | GRCh37 |
| NC_000015.8:g.29003227C>T | NCBI36 |
| NG_032946.1:g.24881C>T | |
| NG_032946.2:g.24881C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362065.9:c.2172+1378C>T (FAN1) MANE Select | ENSP00000354497.4:n.2172+1378C>T | |
| ENST00000568145.6:n.1048+1378C>T (FAN1) | ||
| ENST00000602886.2:n.2349+1378C>T (FAN1) | ||
| ENST00000654056.1:c.883-1364C>T (FAN1) | ENSP00000499726.1:n.883-1364C>T | |
| ENST00000655421.1:n.2443+1378C>T (FAN1) | ||
| ENST00000656109.1:n.2495C>T (FAN1) | ||
| ENST00000656307.1:n.2424+1378C>T (FAN1) | ||
| ENST00000656435.1:c.2172+1378C>T (FAN1) | ENSP00000499534.1:n.2172+1378C>T | |
| ENST00000657391.1:c.2172+1378C>T (FAN1) | ENSP00000499703.1:n.2172+1378C>T | |
| ENST00000661974.1:c.1464+1378C>T (FAN1) | ||
| ENST00000664070.1:c.*1712+1378C>T (FAN1) | ENSP00000499478.1:n.*1712+1378C>T | |
| ENST00000664837.1:c.882+1378C>T (FAN1) | ENSP00000499780.1:n.882+1378C>T | |
| ENST00000666852.1:n.3802C>T (FAN1) | ||
| ENST00000667837.1:n.1984+1378C>T (FAN1) | ||
| ENST00000670074.1:c.*914+1378C>T (FAN1) | ENSP00000499252.1:n.*914+1378C>T | |
| ENST00000670849.1:c.2172+1378C>T (FAN1) | ENSP00000499638.1:n.2172+1378C>T | |
| ENST00000362065.8:c.2172+1378C>T (FAN1) | ENSP00000354497.4:n.2172+1378C>T | |
| ENST00000565280.5:c.*1013+1378C>T (FAN1) | ENSP00000455573.1:n.*1013+1378C>T | |
| ENST00000568145.5:n.94-1364C>T (FAN1) | ||
| NM_014967.4:c.2172+1378C>T (FAN1) | NP_055782.3:n.2172+1378C>T | |
| XM_005254232.3:c.2172+1378C>T (FAN1) | XP_005254289.1:n.2172+1378C>T | |
| XM_005254234.3:c.2172+1378C>T (FAN1) | XP_005254291.1:n.2172+1378C>T | |
| XM_005254235.3:c.2172+1378C>T (FAN1) | XP_005254292.1:n.2172+1378C>T | |
| XM_005254236.2:c.2172+1378C>T (FAN1) | XP_005254293.1:n.2172+1378C>T | |
| XM_011521370.1:c.990+1378C>T (FAN1) | XP_011519672.1:n.990+1378C>T | |
| XM_011521371.1:c.987+1378C>T (FAN1) | XP_011519673.1:n.987+1378C>T | |
| XM_011521737.1:c.1549-3809G>A (MTMR10) | XP_011520039.1:n.1549-3809G>A | |
| XM_005254232.4:c.2172+1378C>T (FAN1) | XP_005254289.1:n.2172+1378C>T | |
| XM_005254234.5:c.2172+1378C>T (FAN1) | XP_005254291.1:n.2172+1378C>T | |
| XM_011521370.2:c.990+1378C>T (FAN1) | XP_011519672.1:n.990+1378C>T | |
| XM_011521737.3:c.1549-3809G>A (MTMR10) | XP_011520039.1:n.1549-3809G>A | |
| XM_017022012.2:c.501+1378C>T (FAN1) | XP_016877501.1:n.501+1378C>T | |
| XM_017022013.1:c.501+1378C>T (FAN1) | XP_016877502.1:n.501+1378C>T | |
| XM_024449874.1:c.987+1378C>T (FAN1) | XP_024305642.1:n.987+1378C>T | |
| XR_001751149.1:n.2471+1378C>T (FAN1) | ||
| XR_001751151.1:n.2467+1378C>T (FAN1) | ||
| NM_014967.5:c.2172+1378C>T (FAN1) MANE Select | NP_055782.3:n.2172+1378C>T |