Linked Data
ClinVar Variation Id:
1498705
ClinVar RCV Id:
RCV001999351
dbSNP Id:
rs1376923890
gnomAD v2:
16-89805364-T-C
gnomAD v4:
16-89738956-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89738956T>C , CM000678.2:g.89738956T>C | GRCh38 |
| NC_000016.9:g.89805364T>C , CM000678.1:g.89805364T>C | GRCh37 |
| NC_000016.8:g.88332865T>C | NCBI36 |
| NG_011706.1:g.82702A>G , LRG_495:g.82702A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2759A>G (FANCA) | ENSP00000512522.1:n.*2759A>G | |
| ENST00000564475.6:c.4190A>G (FANCA) | ENSP00000454977.2:p.Asp1397Gly | |
| ENST00000567510.2:c.2760A>G (FANCA) | ENSP00000455969.1:n.2760A>G | |
| ENST00000568369.6:c.4190A>G (FANCA) | ENSP00000456829.1:p.Asp1397Gly | |
| ENST00000696274.1:n.4147A>G (FANCA) | ||
| ENST00000696275.1:c.*3425A>G (FANCA) | ENSP00000512517.1:n.*3425A>G | |
| ENST00000696286.1:c.*99A>G (FANCA) | ENSP00000512523.1:n.*99A>G | |
| ENST00000696287.1:c.4061A>G (FANCA) | ENSP00000512524.1:p.Asp1354Gly | |
| ENST00000696291.1:c.*3618A>G (FANCA) | ENSP00000512530.1:n.*3618A>G | |
| ENST00000389301.8:c.4186A>G (FANCA) MANE Select | ENSP00000373952.3:p.Ile1396Val | |
| ENST00000443381.7:c.*710T>C (ZNF276) MANE Select | ENSP00000415836.2:n.*710T>C | |
| ENST00000289816.9:c.*710T>C (ZNF276) | ENSP00000289816.5:n.*710T>C | |
| ENST00000389301.7:c.4186A>G (FANCA) | ENSP00000373952.3:p.Ile1396Val | |
| ENST00000561722.5:c.436-30A>G (FANCA) | ENSP00000456608.1:n.436-30A>G | |
| ENST00000562424.1:n.457A>G (FANCA) | ||
| ENST00000563983.5:n.2543T>C (ZNF276) | ||
| ENST00000564475.5:c.520A>G (FANCA) | ||
| ENST00000564870.1:c.387A>G (FANCA) | ||
| ENST00000567879.5:c.560A>G (FANCA) | ENSP00000457006.1:p.Asp187Gly | |
| ENST00000568369.5:c.4190A>G (FANCA) | ENSP00000456829.1:p.Asp1397Gly | |
| NM_000135.2:c.4186A>G , LRG_495t1:c.4186A>G (FANCA) | NP_000126.2:p.Ile1396Val | |
| NM_001113525.1:c.*710T>C (ZNF276) | NP_001106997.1:n.*710T>C | |
| NM_001286167.1:c.4190A>G (FANCA) | NP_001273096.1:p.Asp1397Gly | |
| NM_152287.3:c.*710T>C (ZNF276) | NP_689500.2:n.*710T>C | |
| NR_110122.1:n.2727T>C (ZNF276) | ||
| NR_110126.1:n.2610T>C (ZNF276) | ||
| NR_110128.1:n.2533T>C (ZNF276) | ||
| NR_110129.1:n.2622T>C (ZNF276) | ||
| XM_005256294.3:c.4190A>G (FANCA) | XP_005256351.1:p.Asp1397Gly | |
| XM_011522945.1:c.4061A>G (FANCA) | XP_011521247.1:p.Asp1354Gly | |
| XM_011522946.1:c.3167A>G (FANCA) | XP_011521248.1:p.Asp1056Gly | |
| XM_011522947.1:c.3167A>G (FANCA) | XP_011521249.1:p.Asp1056Gly | |
| XR_933244.1:n.4153A>G (FANCA) | ||
| XR_933245.1:n.4090A>G (FANCA) | ||
| NM_000135.3:c.4186A>G (FANCA) | NP_000126.2:p.Ile1396Val | |
| NM_001286167.2:c.4190A>G (FANCA) | NP_001273096.1:p.Asp1397Gly | |
| XM_005256294.4:c.4190A>G (FANCA) | XP_005256351.1:p.Asp1397Gly | |
| XM_011522945.2:c.4061A>G (FANCA) | XP_011521247.1:p.Asp1354Gly | |
| XM_011522946.3:c.3167A>G (FANCA) | XP_011521248.1:p.Asp1056Gly | |
| XM_011522947.2:c.3167A>G (FANCA) | XP_011521249.1:p.Asp1056Gly | |
| XM_017023044.2:c.4057A>G (FANCA) | XP_016878533.1:p.Ile1353Val | |
| XM_017023890.1:c.*710T>C (ZNF276) | XP_016879379.1:n.*710T>C | |
| XM_024450189.1:c.3167A>G (FANCA) | XP_024305957.1:p.Asp1056Gly | |
| XR_933244.2:n.4153A>G (FANCA) | ||
| XR_933245.2:n.4090A>G (FANCA) | ||
| XR_933484.2:n.2721T>C (ZNF276) | ||
| NM_000135.4:c.4186A>G (FANCA) MANE Select | NP_000126.2:p.Ile1396Val | |
| NM_001113525.2:c.*710T>C (ZNF276) MANE Select | NP_001106997.1:n.*710T>C | |
| NM_001286167.3:c.4190A>G (FANCA) | NP_001273096.1:p.Asp1397Gly | |
| NM_152287.4:c.*710T>C (ZNF276) | NP_689500.2:n.*710T>C | |
| NR_110122.2:n.2710T>C (ZNF276) | ||
| NR_110126.2:n.2593T>C (ZNF276) | ||
| NR_110129.2:n.2627T>C (ZNF276) | ||
| NR_110128.2:n.2533T>C (ZNF276) |