Linked Data
ClinVar Variation Id:
997461
dbSNP Id:
rs199652831
ExAC:
16:89805373 C / T
gnomAD v2:
16-89805373-C-T
gnomAD v3:
16-89738965-C-T
gnomAD v4:
16-89738965-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89738965C>T , CM000678.2:g.89738965C>T | GRCh38 |
| NC_000016.9:g.89805373C>T , CM000678.1:g.89805373C>T | GRCh37 |
| NC_000016.8:g.88332874C>T | NCBI36 |
| NG_011706.1:g.82693G>A , LRG_495:g.82693G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2750G>A (FANCA) | ENSP00000512522.1:n.*2750G>A | |
| ENST00000564475.6:c.4181G>A (FANCA) | ENSP00000454977.2:p.Arg1394His | |
| ENST00000567510.2:c.2751G>A (FANCA) | ENSP00000455969.1:n.2751G>A | |
| ENST00000568369.6:c.4181G>A (FANCA) | ENSP00000456829.1:p.Arg1394His | |
| ENST00000696274.1:n.4138G>A (FANCA) | ||
| ENST00000696275.1:c.*3416G>A (FANCA) | ENSP00000512517.1:n.*3416G>A | |
| ENST00000696286.1:c.*90G>A (FANCA) | ENSP00000512523.1:n.*90G>A | |
| ENST00000696287.1:c.4052G>A (FANCA) | ENSP00000512524.1:p.Arg1351His | |
| ENST00000696291.1:c.*3609G>A (FANCA) | ENSP00000512530.1:n.*3609G>A | |
| ENST00000389301.8:c.4177G>A (FANCA) MANE Select | ENSP00000373952.3:p.Val1393Met | |
| ENST00000443381.7:c.*719C>T (ZNF276) MANE Select | ENSP00000415836.2:n.*719C>T | |
| ENST00000289816.9:c.*719C>T (ZNF276) | ENSP00000289816.5:n.*719C>T | |
| ENST00000389301.7:c.4177G>A (FANCA) | ENSP00000373952.3:p.Val1393Met | |
| ENST00000561722.5:c.436-39G>A (FANCA) | ENSP00000456608.1:n.436-39G>A | |
| ENST00000562424.1:n.448G>A (FANCA) | ||
| ENST00000563983.5:n.2552C>T (ZNF276) | ||
| ENST00000564475.5:c.511G>A (FANCA) | ||
| ENST00000564870.1:c.378G>A (FANCA) | ||
| ENST00000567879.5:c.551G>A (FANCA) | ENSP00000457006.1:p.Arg184His | |
| ENST00000568369.5:c.4181G>A (FANCA) | ENSP00000456829.1:p.Arg1394His | |
| NM_000135.2:c.4177G>A , LRG_495t1:c.4177G>A (FANCA) | NP_000126.2:p.Val1393Met | |
| NM_001113525.1:c.*719C>T (ZNF276) | NP_001106997.1:n.*719C>T | |
| NM_001286167.1:c.4181G>A (FANCA) | NP_001273096.1:p.Arg1394His | |
| NM_152287.3:c.*719C>T (ZNF276) | NP_689500.2:n.*719C>T | |
| NR_110122.1:n.2736C>T (ZNF276) | ||
| NR_110126.1:n.2619C>T (ZNF276) | ||
| NR_110128.1:n.2542C>T (ZNF276) | ||
| NR_110129.1:n.2631C>T (ZNF276) | ||
| XM_005256294.3:c.4181G>A (FANCA) | XP_005256351.1:p.Arg1394His | |
| XM_011522945.1:c.4052G>A (FANCA) | XP_011521247.1:p.Arg1351His | |
| XM_011522946.1:c.3158G>A (FANCA) | XP_011521248.1:p.Arg1053His | |
| XM_011522947.1:c.3158G>A (FANCA) | XP_011521249.1:p.Arg1053His | |
| XR_933244.1:n.4144G>A (FANCA) | ||
| XR_933245.1:n.4081G>A (FANCA) | ||
| NM_000135.3:c.4177G>A (FANCA) | NP_000126.2:p.Val1393Met | |
| NM_001286167.2:c.4181G>A (FANCA) | NP_001273096.1:p.Arg1394His | |
| XM_005256294.4:c.4181G>A (FANCA) | XP_005256351.1:p.Arg1394His | |
| XM_011522945.2:c.4052G>A (FANCA) | XP_011521247.1:p.Arg1351His | |
| XM_011522946.3:c.3158G>A (FANCA) | XP_011521248.1:p.Arg1053His | |
| XM_011522947.2:c.3158G>A (FANCA) | XP_011521249.1:p.Arg1053His | |
| XM_017023044.2:c.4048G>A (FANCA) | XP_016878533.1:p.Val1350Met | |
| XM_017023890.1:c.*719C>T (ZNF276) | XP_016879379.1:n.*719C>T | |
| XM_024450189.1:c.3158G>A (FANCA) | XP_024305957.1:p.Arg1053His | |
| XR_933244.2:n.4144G>A (FANCA) | ||
| XR_933245.2:n.4081G>A (FANCA) | ||
| XR_933484.2:n.2730C>T (ZNF276) | ||
| NM_000135.4:c.4177G>A (FANCA) MANE Select | NP_000126.2:p.Val1393Met | |
| NM_001113525.2:c.*719C>T (ZNF276) MANE Select | NP_001106997.1:n.*719C>T | |
| NM_001286167.3:c.4181G>A (FANCA) | NP_001273096.1:p.Arg1394His | |
| NM_152287.4:c.*719C>T (ZNF276) | NP_689500.2:n.*719C>T | |
| NR_110122.2:n.2719C>T (ZNF276) | ||
| NR_110126.2:n.2602C>T (ZNF276) | ||
| NR_110129.2:n.2636C>T (ZNF276) | ||
| NR_110128.2:n.2542C>T (ZNF276) |