Linked Data
ClinVar Variation Id:
414830
dbSNP Id:
rs74977201
ExAC:
16:89805074 C / T
gnomAD v2:
16-89805074-C-T
gnomAD v3:
16-89738666-C-T
gnomAD v4:
16-89738666-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89738666C>T , CM000678.2:g.89738666C>T | GRCh38 |
| NC_000016.9:g.89805074C>T , CM000678.1:g.89805074C>T | GRCh37 |
| NC_000016.8:g.88332575C>T | NCBI36 |
| NG_011706.1:g.82992G>A , LRG_495:g.82992G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*3049G>A (FANCA) | ENSP00000512522.1:n.*3049G>A | |
| ENST00000564475.6:c.*88G>A (FANCA) | ENSP00000454977.2:n.*88G>A | |
| ENST00000567510.2:c.2877G>A (FANCA) | ENSP00000455969.1:n.2877G>A | |
| ENST00000568369.6:c.*32G>A (FANCA) | ENSP00000456829.1:n.*32G>A | |
| ENST00000696274.1:n.4437G>A (FANCA) | ||
| ENST00000696275.1:c.*3715G>A (FANCA) | ENSP00000512517.1:n.*3715G>A | |
| ENST00000696286.1:c.*216G>A (FANCA) | ENSP00000512523.1:n.*216G>A | |
| ENST00000696287.1:c.*88G>A (FANCA) | ENSP00000512524.1:n.*88G>A | |
| ENST00000696291.1:c.*3908G>A (FANCA) | ENSP00000512530.1:n.*3908G>A | |
| ENST00000389301.8:c.4303G>A (FANCA) MANE Select | ENSP00000373952.3:p.Ala1435Thr | |
| ENST00000443381.7:c.*420C>T (ZNF276) MANE Select | ENSP00000415836.2:n.*420C>T | |
| ENST00000289816.9:c.*420C>T (ZNF276) | ENSP00000289816.5:n.*420C>T | |
| ENST00000389301.7:c.4303G>A (FANCA) | ENSP00000373952.3:p.Ala1435Thr | |
| ENST00000561722.5:c.523G>A (FANCA) | ENSP00000456608.1:p.Ala175Thr | |
| ENST00000562424.1:n.574G>A (FANCA) | ||
| ENST00000563983.5:n.2253C>T (ZNF276) | ||
| ENST00000567879.5:c.677G>A (FANCA) | ENSP00000457006.1:n.677G>A | |
| ENST00000568369.5:c.*32G>A (FANCA) | ENSP00000456829.1:n.*32G>A | |
| NM_000135.2:c.4303G>A , LRG_495t1:c.4303G>A (FANCA) | NP_000126.2:p.Ala1435Thr | |
| NM_001113525.1:c.*420C>T (ZNF276) | NP_001106997.1:n.*420C>T | |
| NM_001286167.1:c.*32G>A (FANCA) | NP_001273096.1:n.*32G>A | |
| NM_152287.3:c.*420C>T (ZNF276) | NP_689500.2:n.*420C>T | |
| NR_110122.1:n.2437C>T (ZNF276) | ||
| NR_110126.1:n.2320C>T (ZNF276) | ||
| NR_110128.1:n.2243C>T (ZNF276) | ||
| NR_110129.1:n.2332C>T (ZNF276) | ||
| XR_933244.1:n.4270G>A (FANCA) | ||
| XR_933245.1:n.4207G>A (FANCA) | ||
| NM_000135.3:c.4303G>A (FANCA) | NP_000126.2:p.Ala1435Thr | |
| NM_001286167.2:c.*32G>A (FANCA) | NP_001273096.1:n.*32G>A | |
| XM_005256294.4:c.*88G>A (FANCA) | XP_005256351.1:n.*88G>A | |
| XM_011522945.2:c.*88G>A (FANCA) | XP_011521247.1:n.*88G>A | |
| XM_011522946.3:c.*88G>A (FANCA) | XP_011521248.1:n.*88G>A | |
| XM_011522947.2:c.*88G>A (FANCA) | XP_011521249.1:n.*88G>A | |
| XM_017023044.2:c.4174G>A (FANCA) | XP_016878533.1:p.Ala1392Thr | |
| XM_017023890.1:c.*420C>T (ZNF276) | XP_016879379.1:n.*420C>T | |
| XM_024450189.1:c.*88G>A (FANCA) | XP_024305957.1:n.*88G>A | |
| XR_933244.2:n.4270G>A (FANCA) | ||
| XR_933245.2:n.4207G>A (FANCA) | ||
| XR_933484.2:n.2431C>T (ZNF276) | ||
| NM_000135.4:c.4303G>A (FANCA) MANE Select | NP_000126.2:p.Ala1435Thr | |
| NM_001113525.2:c.*420C>T (ZNF276) MANE Select | NP_001106997.1:n.*420C>T | |
| NM_001286167.3:c.*32G>A (FANCA) | NP_001273096.1:n.*32G>A | |
| NM_152287.4:c.*420C>T (ZNF276) | NP_689500.2:n.*420C>T | |
| NR_110122.2:n.2420C>T (ZNF276) | ||
| NR_110126.2:n.2303C>T (ZNF276) | ||
| NR_110129.2:n.2337C>T (ZNF276) | ||
| NR_110128.2:n.2243C>T (ZNF276) |