Linked Data
ClinVar Variation Id:
37097
dbSNP Id:
rs387907279
ExAC:
15:31217402 C / T
gnomAD v2:
15-31217402-C-T
gnomAD v3:
15-30925199-C-T
gnomAD v4:
15-30925199-C-T
PubMed:
PMID:22772369
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.30925199C>T , CM000677.2:g.30925199C>T | GRCh38 |
| NC_000015.9:g.31217402C>T , CM000677.1:g.31217402C>T | GRCh37 |
| NC_000015.8:g.29004694C>T | NCBI36 |
| NG_032946.1:g.26348C>T | |
| NG_032946.2:g.26348C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362065.9:c.2245C>T (FAN1) MANE Select | ENSP00000354497.4:p.Arg749Ter | |
| ENST00000562881.2:n.716C>T (FAN1) | ||
| ENST00000568145.6:n.1121C>T (FAN1) | ||
| ENST00000602886.2:n.2422C>T (FAN1) | ||
| ENST00000654056.1:c.*89C>T (FAN1) | ENSP00000499726.1:n.*89C>T | |
| ENST00000655421.1:n.2516C>T (FAN1) | ||
| ENST00000656307.1:n.2497C>T (FAN1) | ||
| ENST00000656435.1:c.2245C>T (FAN1) | ENSP00000499534.1:p.Arg749Ter | |
| ENST00000657391.1:c.2245C>T (FAN1) | ENSP00000499703.1:p.Arg749Ter | |
| ENST00000661974.1:c.1537C>T (FAN1) | ||
| ENST00000664070.1:c.*1785C>T (FAN1) | ENSP00000499478.1:n.*1785C>T | |
| ENST00000664837.1:c.955C>T (FAN1) | ENSP00000499780.1:p.Arg319Ter | |
| ENST00000667837.1:n.2057C>T (FAN1) | ||
| ENST00000670074.1:c.*987C>T (FAN1) | ENSP00000499252.1:n.*987C>T | |
| ENST00000670849.1:c.2245C>T (FAN1) | ENSP00000499638.1:p.Arg749Ter | |
| ENST00000362065.8:c.2245C>T (FAN1) | ENSP00000354497.4:p.Arg749Ter | |
| ENST00000565280.5:c.*1086C>T (FAN1) | ENSP00000455573.1:n.*1086C>T | |
| ENST00000568145.5:n.197C>T (FAN1) | ||
| NM_014967.4:c.2245C>T (FAN1) | NP_055782.3:p.Arg749Ter | |
| XM_005254232.3:c.2245C>T (FAN1) | XP_005254289.1:p.Arg749Ter | |
| XM_005254234.3:c.2245C>T (FAN1) | XP_005254291.1:p.Arg749Ter | |
| XM_005254235.3:c.2245C>T (FAN1) | XP_005254292.1:p.Arg749Ter | |
| XM_005254236.2:c.2245C>T (FAN1) | XP_005254293.1:p.Arg749Ter | |
| XM_011521370.1:c.1063C>T (FAN1) | XP_011519672.1:p.Arg355Ter | |
| XM_011521371.1:c.1060C>T (FAN1) | XP_011519673.1:p.Arg354Ter | |
| XM_011521737.1:c.1549-5276G>A (MTMR10) | XP_011520039.1:n.1549-5276G>A | |
| XM_005254232.4:c.2245C>T (FAN1) | XP_005254289.1:p.Arg749Ter | |
| XM_005254234.5:c.2245C>T (FAN1) | XP_005254291.1:p.Arg749Ter | |
| XM_011521370.2:c.1063C>T (FAN1) | XP_011519672.1:p.Arg355Ter | |
| XM_011521737.3:c.1549-5276G>A (MTMR10) | XP_011520039.1:n.1549-5276G>A | |
| XM_017022012.2:c.574C>T (FAN1) | XP_016877501.1:p.Arg192Ter | |
| XM_017022013.1:c.574C>T (FAN1) | XP_016877502.1:p.Arg192Ter | |
| XM_024449874.1:c.1060C>T (FAN1) | XP_024305642.1:p.Arg354Ter | |
| XR_001751149.1:n.2544C>T (FAN1) | ||
| XR_001751151.1:n.2540C>T (FAN1) | ||
| NM_014967.5:c.2245C>T (FAN1) MANE Select | NP_055782.3:p.Arg749Ter |