Linked Data
dbSNP Id:
rs34218545
ExAC:
16:89805467 G / A
gnomAD v2:
16-89805467-G-A
gnomAD v3:
16-89739059-G-A
gnomAD v4:
16-89739059-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89739059G>A , CM000678.2:g.89739059G>A | GRCh38 |
| NC_000016.9:g.89805467G>A , CM000678.1:g.89805467G>A | GRCh37 |
| NC_000016.8:g.88332968G>A | NCBI36 |
| NG_011706.1:g.82599C>T , LRG_495:g.82599C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2740+74C>T (FANCA) | ENSP00000512522.1:n.*2740+74C>T | |
| ENST00000564475.6:c.4171+70C>T (FANCA) | ENSP00000454977.2:n.4171+70C>T | |
| ENST00000567510.2:c.2741+70C>T (FANCA) | ENSP00000455969.1:n.2741+70C>T | |
| ENST00000568369.6:c.4171+70C>T (FANCA) | ENSP00000456829.1:n.4171+70C>T | |
| ENST00000696274.1:n.4128+74C>T (FANCA) | ||
| ENST00000696275.1:c.*3406+70C>T (FANCA) | ENSP00000512517.1:n.*3406+70C>T | |
| ENST00000696286.1:c.*80+74C>T (FANCA) | ENSP00000512523.1:n.*80+74C>T | |
| ENST00000696287.1:c.4042+70C>T (FANCA) | ENSP00000512524.1:n.4042+70C>T | |
| ENST00000696291.1:c.*3599+74C>T (FANCA) | ENSP00000512530.1:n.*3599+74C>T | |
| ENST00000389301.8:c.4167+74C>T (FANCA) MANE Select | ENSP00000373952.3:n.4167+74C>T | |
| ENST00000443381.7:c.*813G>A (ZNF276) MANE Select | ENSP00000415836.2:n.*813G>A | |
| ENST00000289816.9:c.*813G>A (ZNF276) | ENSP00000289816.5:n.*813G>A | |
| ENST00000389301.7:c.4167+74C>T (FANCA) | ENSP00000373952.3:n.4167+74C>T | |
| ENST00000561722.5:c.392C>T (FANCA) | ENSP00000456608.1:p.Pro131Leu | |
| ENST00000562424.1:n.438+74C>T (FANCA) | ||
| ENST00000563983.5:n.2646G>A (ZNF276) | ||
| ENST00000564475.5:c.501+70C>T (FANCA) | ||
| ENST00000564870.1:c.368+74C>T (FANCA) | ||
| ENST00000567879.5:c.541+79C>T (FANCA) | ENSP00000457006.1:n.541+79C>T | |
| ENST00000568369.5:c.4171+70C>T (FANCA) | ENSP00000456829.1:n.4171+70C>T | |
| NM_000135.2:c.4167+74C>T , LRG_495t1:c.4167+74C>T (FANCA) | NP_000126.2:n.4167+74C>T | |
| NM_001113525.1:c.*813G>A (ZNF276) | NP_001106997.1:n.*813G>A | |
| NM_001286167.1:c.4171+70C>T (FANCA) | NP_001273096.1:n.4171+70C>T | |
| NM_152287.3:c.*813G>A (ZNF276) | NP_689500.2:n.*813G>A | |
| NR_110122.1:n.2830G>A (ZNF276) | ||
| NR_110126.1:n.2713G>A (ZNF276) | ||
| NR_110128.1:n.2636G>A (ZNF276) | ||
| NR_110129.1:n.2725G>A (ZNF276) | ||
| XM_005256294.3:c.4171+70C>T (FANCA) | XP_005256351.1:n.4171+70C>T | |
| XM_011522945.1:c.4042+70C>T (FANCA) | XP_011521247.1:n.4042+70C>T | |
| XM_011522946.1:c.3148+70C>T (FANCA) | XP_011521248.1:n.3148+70C>T | |
| XM_011522947.1:c.3148+70C>T (FANCA) | XP_011521249.1:n.3148+70C>T | |
| XR_933244.1:n.4134+74C>T (FANCA) | ||
| XR_933245.1:n.4071+74C>T (FANCA) | ||
| NM_000135.3:c.4167+74C>T (FANCA) | NP_000126.2:n.4167+74C>T | |
| NM_001286167.2:c.4171+70C>T (FANCA) | NP_001273096.1:n.4171+70C>T | |
| XM_005256294.4:c.4171+70C>T (FANCA) | XP_005256351.1:n.4171+70C>T | |
| XM_011522945.2:c.4042+70C>T (FANCA) | XP_011521247.1:n.4042+70C>T | |
| XM_011522946.3:c.3148+70C>T (FANCA) | XP_011521248.1:n.3148+70C>T | |
| XM_011522947.2:c.3148+70C>T (FANCA) | XP_011521249.1:n.3148+70C>T | |
| XM_017023044.2:c.4038+74C>T (FANCA) | XP_016878533.1:n.4038+74C>T | |
| XM_017023890.1:c.*813G>A (ZNF276) | XP_016879379.1:n.*813G>A | |
| XM_024450189.1:c.3148+70C>T (FANCA) | XP_024305957.1:n.3148+70C>T | |
| XR_933244.2:n.4134+74C>T (FANCA) | ||
| XR_933245.2:n.4071+74C>T (FANCA) | ||
| XR_933484.2:n.2824G>A (ZNF276) | ||
| NM_000135.4:c.4167+74C>T (FANCA) MANE Select | NP_000126.2:n.4167+74C>T | |
| NM_001113525.2:c.*813G>A (ZNF276) MANE Select | NP_001106997.1:n.*813G>A | |
| NM_001286167.3:c.4171+70C>T (FANCA) | NP_001273096.1:n.4171+70C>T | |
| NM_152287.4:c.*813G>A (ZNF276) | NP_689500.2:n.*813G>A | |
| NR_110122.2:n.2813G>A (ZNF276) | ||
| NR_110126.2:n.2696G>A (ZNF276) | ||
| NR_110129.2:n.2730G>A (ZNF276) | ||
| NR_110128.2:n.2636G>A (ZNF276) |