Linked Data
dbSNP Id:
rs566927763
ExAC:
16:89805349 G / C
gnomAD v2:
16-89805349-G-C
gnomAD v3:
16-89738941-G-C
gnomAD v4:
16-89738941-G-C
COSMIC:
COSM417223
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89738941G>C , CM000678.2:g.89738941G>C | GRCh38 |
| NC_000016.9:g.89805349G>C , CM000678.1:g.89805349G>C | GRCh37 |
| NC_000016.8:g.88332850G>C | NCBI36 |
| NG_011706.1:g.82717C>G , LRG_495:g.82717C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2774C>G (FANCA) | ENSP00000512522.1:n.*2774C>G | |
| ENST00000564475.6:c.4205C>G (FANCA) | ENSP00000454977.2:p.Ser1402Cys | |
| ENST00000567510.2:c.2775C>G (FANCA) | ENSP00000455969.1:n.2775C>G | |
| ENST00000568369.6:c.4205C>G (FANCA) | ENSP00000456829.1:p.Ser1402Cys | |
| ENST00000696274.1:n.4162C>G (FANCA) | ||
| ENST00000696275.1:c.*3440C>G (FANCA) | ENSP00000512517.1:n.*3440C>G | |
| ENST00000696286.1:c.*114C>G (FANCA) | ENSP00000512523.1:n.*114C>G | |
| ENST00000696287.1:c.4076C>G (FANCA) | ENSP00000512524.1:p.Ser1359Cys | |
| ENST00000696291.1:c.*3633C>G (FANCA) | ENSP00000512530.1:n.*3633C>G | |
| ENST00000389301.8:c.4201C>G (FANCA) MANE Select | ENSP00000373952.3:p.Leu1401Val | |
| ENST00000443381.7:c.*695G>C (ZNF276) MANE Select | ENSP00000415836.2:n.*695G>C | |
| ENST00000289816.9:c.*695G>C (ZNF276) | ENSP00000289816.5:n.*695G>C | |
| ENST00000389301.7:c.4201C>G (FANCA) | ENSP00000373952.3:p.Leu1401Val | |
| ENST00000561722.5:c.436-15C>G (FANCA) | ENSP00000456608.1:n.436-15C>G | |
| ENST00000562424.1:n.472C>G (FANCA) | ||
| ENST00000563983.5:n.2528G>C (ZNF276) | ||
| ENST00000564475.5:c.535C>G (FANCA) | ||
| ENST00000564870.1:c.402C>G (FANCA) | ||
| ENST00000567879.5:c.575C>G (FANCA) | ENSP00000457006.1:p.Ser192Cys | |
| ENST00000568369.5:c.4205C>G (FANCA) | ENSP00000456829.1:p.Ser1402Cys | |
| NM_000135.2:c.4201C>G , LRG_495t1:c.4201C>G (FANCA) | NP_000126.2:p.Leu1401Val | |
| NM_001113525.1:c.*695G>C (ZNF276) | NP_001106997.1:n.*695G>C | |
| NM_001286167.1:c.4205C>G (FANCA) | NP_001273096.1:p.Ser1402Cys | |
| NM_152287.3:c.*695G>C (ZNF276) | NP_689500.2:n.*695G>C | |
| NR_110122.1:n.2712G>C (ZNF276) | ||
| NR_110126.1:n.2595G>C (ZNF276) | ||
| NR_110128.1:n.2518G>C (ZNF276) | ||
| NR_110129.1:n.2607G>C (ZNF276) | ||
| XM_005256294.3:c.4205C>G (FANCA) | XP_005256351.1:p.Ser1402Cys | |
| XM_011522945.1:c.4076C>G (FANCA) | XP_011521247.1:p.Ser1359Cys | |
| XM_011522946.1:c.3182C>G (FANCA) | XP_011521248.1:p.Ser1061Cys | |
| XM_011522947.1:c.3182C>G (FANCA) | XP_011521249.1:p.Ser1061Cys | |
| XR_933244.1:n.4168C>G (FANCA) | ||
| XR_933245.1:n.4105C>G (FANCA) | ||
| NM_000135.3:c.4201C>G (FANCA) | NP_000126.2:p.Leu1401Val | |
| NM_001286167.2:c.4205C>G (FANCA) | NP_001273096.1:p.Ser1402Cys | |
| XM_005256294.4:c.4205C>G (FANCA) | XP_005256351.1:p.Ser1402Cys | |
| XM_011522945.2:c.4076C>G (FANCA) | XP_011521247.1:p.Ser1359Cys | |
| XM_011522946.3:c.3182C>G (FANCA) | XP_011521248.1:p.Ser1061Cys | |
| XM_011522947.2:c.3182C>G (FANCA) | XP_011521249.1:p.Ser1061Cys | |
| XM_017023044.2:c.4072C>G (FANCA) | XP_016878533.1:p.Leu1358Val | |
| XM_017023890.1:c.*695G>C (ZNF276) | XP_016879379.1:n.*695G>C | |
| XM_024450189.1:c.3182C>G (FANCA) | XP_024305957.1:p.Ser1061Cys | |
| XR_933244.2:n.4168C>G (FANCA) | ||
| XR_933245.2:n.4105C>G (FANCA) | ||
| XR_933484.2:n.2706G>C (ZNF276) | ||
| NM_000135.4:c.4201C>G (FANCA) MANE Select | NP_000126.2:p.Leu1401Val | |
| NM_001113525.2:c.*695G>C (ZNF276) MANE Select | NP_001106997.1:n.*695G>C | |
| NM_001286167.3:c.4205C>G (FANCA) | NP_001273096.1:p.Ser1402Cys | |
| NM_152287.4:c.*695G>C (ZNF276) | NP_689500.2:n.*695G>C | |
| NR_110122.2:n.2695G>C (ZNF276) | ||
| NR_110126.2:n.2578G>C (ZNF276) | ||
| NR_110129.2:n.2612G>C (ZNF276) | ||
| NR_110128.2:n.2518G>C (ZNF276) |