Linked Data
ClinVar Variation Id:
526419
dbSNP Id:
rs142919010
ExAC:
16:89806486 C / T
gnomAD v2:
16-89806486-C-T
gnomAD v3:
16-89740078-C-T
gnomAD v4:
16-89740078-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89740078C>T , CM000678.2:g.89740078C>T | GRCh38 |
| NC_000016.9:g.89806486C>T , CM000678.1:g.89806486C>T | GRCh37 |
| NC_000016.8:g.88333987C>T | NCBI36 |
| NG_011706.1:g.81580G>A , LRG_495:g.81580G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2328G>A (FANCA) | ENSP00000512522.1:n.*2328G>A | |
| ENST00000564475.6:c.3850G>A (FANCA) | ENSP00000454977.2:p.Ala1284Thr | |
| ENST00000567510.2:c.2420G>A (FANCA) | ENSP00000455969.1:n.2420G>A | |
| ENST00000568369.6:c.3850G>A (FANCA) | ENSP00000456829.1:p.Ala1284Thr | |
| ENST00000696274.1:n.3811G>A (FANCA) | ||
| ENST00000696275.1:c.*3085G>A (FANCA) | ENSP00000512517.1:n.*3085G>A | |
| ENST00000696286.1:c.3850G>A (FANCA) | ENSP00000512523.1:p.Ala1284Thr | |
| ENST00000696287.1:c.3721G>A (FANCA) | ENSP00000512524.1:p.Ala1241Thr | |
| ENST00000696291.1:c.*3282G>A (FANCA) | ENSP00000512530.1:n.*3282G>A | |
| ENST00000389301.8:c.3850G>A (FANCA) MANE Select | ENSP00000373952.3:p.Ala1284Thr | |
| ENST00000443381.7:c.*1832C>T (ZNF276) MANE Select | ENSP00000415836.2:n.*1832C>T | |
| ENST00000289816.9:c.*1832C>T (ZNF276) | ENSP00000289816.5:n.*1832C>T | |
| ENST00000305699.15:n.1093G>A (FANCA) | ||
| ENST00000389301.7:c.3850G>A (FANCA) | ENSP00000373952.3:p.Ala1284Thr | |
| ENST00000561722.5:c.1G>A (FANCA) | ENSP00000456608.1:p.Ala1Thr | |
| ENST00000564475.5:c.180G>A (FANCA) | ||
| ENST00000564870.1:c.51G>A (FANCA) | ||
| ENST00000564969.5:n.135G>A (FANCA) | ||
| ENST00000567879.5:c.328G>A (FANCA) | ENSP00000457006.1:p.Ala110Thr | |
| ENST00000568369.5:c.3850G>A (FANCA) | ENSP00000456829.1:p.Ala1284Thr | |
| ENST00000568626.1:c.559G>A (FANCA) | ||
| NM_000135.2:c.3850G>A , LRG_495t1:c.3850G>A (FANCA) | NP_000126.2:p.Ala1284Thr | |
| NM_001113525.1:c.*1832C>T (ZNF276) | NP_001106997.1:n.*1832C>T | |
| NM_001286167.1:c.3850G>A (FANCA) | NP_001273096.1:p.Ala1284Thr | |
| NM_152287.3:c.*1832C>T (ZNF276) | NP_689500.2:n.*1832C>T | |
| XM_005256294.3:c.3850G>A (FANCA) | XP_005256351.1:p.Ala1284Thr | |
| XM_011522945.1:c.3721G>A (FANCA) | XP_011521247.1:p.Ala1241Thr | |
| XM_011522946.1:c.2827G>A (FANCA) | XP_011521248.1:p.Ala943Thr | |
| XM_011522947.1:c.2827G>A (FANCA) | XP_011521249.1:p.Ala943Thr | |
| XR_933244.1:n.3893G>A (FANCA) | ||
| XR_933245.1:n.3754G>A (FANCA) | ||
| XR_933246.1:n.3720G>A (FANCA) | ||
| NM_000135.3:c.3850G>A (FANCA) | NP_000126.2:p.Ala1284Thr | |
| NM_001286167.2:c.3850G>A (FANCA) | NP_001273096.1:p.Ala1284Thr | |
| XM_005256294.4:c.3850G>A (FANCA) | XP_005256351.1:p.Ala1284Thr | |
| XM_011522945.2:c.3721G>A (FANCA) | XP_011521247.1:p.Ala1241Thr | |
| XM_011522946.3:c.2827G>A (FANCA) | XP_011521248.1:p.Ala943Thr | |
| XM_011522947.2:c.2827G>A (FANCA) | XP_011521249.1:p.Ala943Thr | |
| XM_017023044.2:c.3721G>A (FANCA) | XP_016878533.1:p.Ala1241Thr | |
| XM_024450189.1:c.2827G>A (FANCA) | XP_024305957.1:p.Ala943Thr | |
| XR_001751866.1:n.3720G>A (FANCA) | ||
| XR_933244.2:n.3893G>A (FANCA) | ||
| XR_933245.2:n.3754G>A (FANCA) | ||
| NM_000135.4:c.3850G>A (FANCA) MANE Select | NP_000126.2:p.Ala1284Thr | |
| NM_001113525.2:c.*1832C>T (ZNF276) MANE Select | NP_001106997.1:n.*1832C>T | |
| NM_001286167.3:c.3850G>A (FANCA) | NP_001273096.1:p.Ala1284Thr | |
| NM_152287.4:c.*1832C>T (ZNF276) | NP_689500.2:n.*1832C>T | |
| NR_110122.2:n.3832C>T (ZNF276) | ||
| NR_110126.2:n.3715C>T (ZNF276) | ||
| NR_110129.2:n.3749C>T (ZNF276) | ||
| NR_110128.2:n.3655C>T (ZNF276) |