Linked Data
ClinVar Variation Id:
408204
dbSNP Id:
rs142919010
ExAC:
16:89806486 C / G
gnomAD v2:
16-89806486-C-G
gnomAD v3:
16-89740078-C-G
gnomAD v4:
16-89740078-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89740078C>G , CM000678.2:g.89740078C>G | GRCh38 |
| NC_000016.9:g.89806486C>G , CM000678.1:g.89806486C>G | GRCh37 |
| NC_000016.8:g.88333987C>G | NCBI36 |
| NG_011706.1:g.81580G>C , LRG_495:g.81580G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2328G>C (FANCA) | ENSP00000512522.1:n.*2328G>C | |
| ENST00000564475.6:c.3850G>C (FANCA) | ENSP00000454977.2:p.Ala1284Pro | |
| ENST00000567510.2:c.2420G>C (FANCA) | ENSP00000455969.1:n.2420G>C | |
| ENST00000568369.6:c.3850G>C (FANCA) | ENSP00000456829.1:p.Ala1284Pro | |
| ENST00000696274.1:n.3811G>C (FANCA) | ||
| ENST00000696275.1:c.*3085G>C (FANCA) | ENSP00000512517.1:n.*3085G>C | |
| ENST00000696286.1:c.3850G>C (FANCA) | ENSP00000512523.1:p.Ala1284Pro | |
| ENST00000696287.1:c.3721G>C (FANCA) | ENSP00000512524.1:p.Ala1241Pro | |
| ENST00000696291.1:c.*3282G>C (FANCA) | ENSP00000512530.1:n.*3282G>C | |
| ENST00000389301.8:c.3850G>C (FANCA) MANE Select | ENSP00000373952.3:p.Ala1284Pro | |
| ENST00000443381.7:c.*1832C>G (ZNF276) MANE Select | ENSP00000415836.2:n.*1832C>G | |
| ENST00000289816.9:c.*1832C>G (ZNF276) | ENSP00000289816.5:n.*1832C>G | |
| ENST00000305699.15:n.1093G>C (FANCA) | ||
| ENST00000389301.7:c.3850G>C (FANCA) | ENSP00000373952.3:p.Ala1284Pro | |
| ENST00000561722.5:c.1G>C (FANCA) | ENSP00000456608.1:p.Ala1Pro | |
| ENST00000564475.5:c.180G>C (FANCA) | ||
| ENST00000564870.1:c.51G>C (FANCA) | ||
| ENST00000564969.5:n.135G>C (FANCA) | ||
| ENST00000567879.5:c.328G>C (FANCA) | ENSP00000457006.1:p.Ala110Pro | |
| ENST00000568369.5:c.3850G>C (FANCA) | ENSP00000456829.1:p.Ala1284Pro | |
| ENST00000568626.1:c.559G>C (FANCA) | ||
| NM_000135.2:c.3850G>C , LRG_495t1:c.3850G>C (FANCA) | NP_000126.2:p.Ala1284Pro | |
| NM_001113525.1:c.*1832C>G (ZNF276) | NP_001106997.1:n.*1832C>G | |
| NM_001286167.1:c.3850G>C (FANCA) | NP_001273096.1:p.Ala1284Pro | |
| NM_152287.3:c.*1832C>G (ZNF276) | NP_689500.2:n.*1832C>G | |
| XM_005256294.3:c.3850G>C (FANCA) | XP_005256351.1:p.Ala1284Pro | |
| XM_011522945.1:c.3721G>C (FANCA) | XP_011521247.1:p.Ala1241Pro | |
| XM_011522946.1:c.2827G>C (FANCA) | XP_011521248.1:p.Ala943Pro | |
| XM_011522947.1:c.2827G>C (FANCA) | XP_011521249.1:p.Ala943Pro | |
| XR_933244.1:n.3893G>C (FANCA) | ||
| XR_933245.1:n.3754G>C (FANCA) | ||
| XR_933246.1:n.3720G>C (FANCA) | ||
| NM_000135.3:c.3850G>C (FANCA) | NP_000126.2:p.Ala1284Pro | |
| NM_001286167.2:c.3850G>C (FANCA) | NP_001273096.1:p.Ala1284Pro | |
| XM_005256294.4:c.3850G>C (FANCA) | XP_005256351.1:p.Ala1284Pro | |
| XM_011522945.2:c.3721G>C (FANCA) | XP_011521247.1:p.Ala1241Pro | |
| XM_011522946.3:c.2827G>C (FANCA) | XP_011521248.1:p.Ala943Pro | |
| XM_011522947.2:c.2827G>C (FANCA) | XP_011521249.1:p.Ala943Pro | |
| XM_017023044.2:c.3721G>C (FANCA) | XP_016878533.1:p.Ala1241Pro | |
| XM_024450189.1:c.2827G>C (FANCA) | XP_024305957.1:p.Ala943Pro | |
| XR_001751866.1:n.3720G>C (FANCA) | ||
| XR_933244.2:n.3893G>C (FANCA) | ||
| XR_933245.2:n.3754G>C (FANCA) | ||
| NM_000135.4:c.3850G>C (FANCA) MANE Select | NP_000126.2:p.Ala1284Pro | |
| NM_001113525.2:c.*1832C>G (ZNF276) MANE Select | NP_001106997.1:n.*1832C>G | |
| NM_001286167.3:c.3850G>C (FANCA) | NP_001273096.1:p.Ala1284Pro | |
| NM_152287.4:c.*1832C>G (ZNF276) | NP_689500.2:n.*1832C>G | |
| NR_110122.2:n.3832C>G (ZNF276) | ||
| NR_110126.2:n.3715C>G (ZNF276) | ||
| NR_110129.2:n.3749C>G (ZNF276) | ||
| NR_110128.2:n.3655C>G (ZNF276) |