Linked Data
dbSNP Id:
rs367970303
gnomAD v2:
16-89805563-C-A
gnomAD v3:
16-89739155-C-A
gnomAD v4:
16-89739155-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89739155C>A , CM000678.2:g.89739155C>A | GRCh38 |
| NC_000016.9:g.89805563C>A , CM000678.1:g.89805563C>A | GRCh37 |
| NC_000016.8:g.88333064C>A | NCBI36 |
| NG_011706.1:g.82503G>T , LRG_495:g.82503G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2718G>T (FANCA) | ENSP00000512522.1:n.*2718G>T | |
| ENST00000564475.6:c.4145G>T (FANCA) | ENSP00000454977.2:p.Arg1382Met | |
| ENST00000567510.2:c.2715G>T (FANCA) | ENSP00000455969.1:n.2715G>T | |
| ENST00000568369.6:c.4145G>T (FANCA) | ENSP00000456829.1:p.Arg1382Met | |
| ENST00000696274.1:n.4106G>T (FANCA) | ||
| ENST00000696275.1:c.*3380G>T (FANCA) | ENSP00000512517.1:n.*3380G>T | |
| ENST00000696286.1:c.*58G>T (FANCA) | ENSP00000512523.1:n.*58G>T | |
| ENST00000696287.1:c.4016G>T (FANCA) | ENSP00000512524.1:p.Arg1339Met | |
| ENST00000696291.1:c.*3577G>T (FANCA) | ENSP00000512530.1:n.*3577G>T | |
| ENST00000389301.8:c.4145G>T (FANCA) MANE Select | ENSP00000373952.3:p.Arg1382Met | |
| ENST00000443381.7:c.*909C>A (ZNF276) MANE Select | ENSP00000415836.2:n.*909C>A | |
| ENST00000289816.9:c.*909C>A (ZNF276) | ENSP00000289816.5:n.*909C>A | |
| ENST00000389301.7:c.4145G>T (FANCA) | ENSP00000373952.3:p.Arg1382Met | |
| ENST00000561722.5:c.296G>T (FANCA) | ENSP00000456608.1:p.Arg99Met | |
| ENST00000562424.1:n.416G>T (FANCA) | ||
| ENST00000563983.5:n.2742C>A (ZNF276) | ||
| ENST00000564475.5:c.475G>T (FANCA) | ||
| ENST00000564870.1:c.346G>T (FANCA) | ||
| ENST00000567879.5:c.524G>T (FANCA) | ENSP00000457006.1:p.Arg175Met | |
| ENST00000568369.5:c.4145G>T (FANCA) | ENSP00000456829.1:p.Arg1382Met | |
| NM_000135.2:c.4145G>T , LRG_495t1:c.4145G>T (FANCA) | NP_000126.2:p.Arg1382Met | |
| NM_001113525.1:c.*909C>A (ZNF276) | NP_001106997.1:n.*909C>A | |
| NM_001286167.1:c.4145G>T (FANCA) | NP_001273096.1:p.Arg1382Met | |
| NM_152287.3:c.*909C>A (ZNF276) | NP_689500.2:n.*909C>A | |
| NR_110122.1:n.2926C>A (ZNF276) | ||
| NR_110126.1:n.2809C>A (ZNF276) | ||
| NR_110128.1:n.2732C>A (ZNF276) | ||
| NR_110129.1:n.2821C>A (ZNF276) | ||
| XM_005256294.3:c.4145G>T (FANCA) | XP_005256351.1:p.Arg1382Met | |
| XM_011522945.1:c.4016G>T (FANCA) | XP_011521247.1:p.Arg1339Met | |
| XM_011522946.1:c.3122G>T (FANCA) | XP_011521248.1:p.Arg1041Met | |
| XM_011522947.1:c.3122G>T (FANCA) | XP_011521249.1:p.Arg1041Met | |
| XR_933244.1:n.4112G>T (FANCA) | ||
| XR_933245.1:n.4049G>T (FANCA) | ||
| NM_000135.3:c.4145G>T (FANCA) | NP_000126.2:p.Arg1382Met | |
| NM_001286167.2:c.4145G>T (FANCA) | NP_001273096.1:p.Arg1382Met | |
| XM_005256294.4:c.4145G>T (FANCA) | XP_005256351.1:p.Arg1382Met | |
| XM_011522945.2:c.4016G>T (FANCA) | XP_011521247.1:p.Arg1339Met | |
| XM_011522946.3:c.3122G>T (FANCA) | XP_011521248.1:p.Arg1041Met | |
| XM_011522947.2:c.3122G>T (FANCA) | XP_011521249.1:p.Arg1041Met | |
| XM_017023044.2:c.4016G>T (FANCA) | XP_016878533.1:p.Arg1339Met | |
| XM_017023890.1:c.*909C>A (ZNF276) | XP_016879379.1:n.*909C>A | |
| XM_024450189.1:c.3122G>T (FANCA) | XP_024305957.1:p.Arg1041Met | |
| XR_933244.2:n.4112G>T (FANCA) | ||
| XR_933245.2:n.4049G>T (FANCA) | ||
| XR_933484.2:n.2920C>A (ZNF276) | ||
| NM_000135.4:c.4145G>T (FANCA) MANE Select | NP_000126.2:p.Arg1382Met | |
| NM_001113525.2:c.*909C>A (ZNF276) MANE Select | NP_001106997.1:n.*909C>A | |
| NM_001286167.3:c.4145G>T (FANCA) | NP_001273096.1:p.Arg1382Met | |
| NM_152287.4:c.*909C>A (ZNF276) | NP_689500.2:n.*909C>A | |
| NR_110122.2:n.2909C>A (ZNF276) | ||
| NR_110126.2:n.2792C>A (ZNF276) | ||
| NR_110129.2:n.2826C>A (ZNF276) | ||
| NR_110128.2:n.2732C>A (ZNF276) |