Linked Data
ClinVar Variation Id:
2044658
ClinVar RCV Id:
RCV002903849
dbSNP Id:
rs372493612
gnomAD v4:
16-89739165-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89739165G>T , CM000678.2:g.89739165G>T | GRCh38 |
| NC_000016.9:g.89805573G>T , CM000678.1:g.89805573G>T | GRCh37 |
| NC_000016.8:g.88333074G>T | NCBI36 |
| NG_011706.1:g.82493C>A , LRG_495:g.82493C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2708C>A (FANCA) | ENSP00000512522.1:n.*2708C>A | |
| ENST00000564475.6:c.4135C>A (FANCA) | ENSP00000454977.2:p.Pro1379Thr | |
| ENST00000567510.2:c.2705C>A (FANCA) | ENSP00000455969.1:n.2705C>A | |
| ENST00000568369.6:c.4135C>A (FANCA) | ENSP00000456829.1:p.Pro1379Thr | |
| ENST00000696274.1:n.4096C>A (FANCA) | ||
| ENST00000696275.1:c.*3370C>A (FANCA) | ENSP00000512517.1:n.*3370C>A | |
| ENST00000696286.1:c.*48C>A (FANCA) | ENSP00000512523.1:n.*48C>A | |
| ENST00000696287.1:c.4006C>A (FANCA) | ENSP00000512524.1:p.Pro1336Thr | |
| ENST00000696291.1:c.*3567C>A (FANCA) | ENSP00000512530.1:n.*3567C>A | |
| ENST00000389301.8:c.4135C>A (FANCA) MANE Select | ENSP00000373952.3:p.Pro1379Thr | |
| ENST00000443381.7:c.*919G>T (ZNF276) MANE Select | ENSP00000415836.2:n.*919G>T | |
| ENST00000289816.9:c.*919G>T (ZNF276) | ENSP00000289816.5:n.*919G>T | |
| ENST00000389301.7:c.4135C>A (FANCA) | ENSP00000373952.3:p.Pro1379Thr | |
| ENST00000561722.5:c.286C>A (FANCA) | ENSP00000456608.1:p.Pro96Thr | |
| ENST00000562424.1:n.406C>A (FANCA) | ||
| ENST00000563983.5:n.2752G>T (ZNF276) | ||
| ENST00000564475.5:c.465C>A (FANCA) | ||
| ENST00000564870.1:c.336C>A (FANCA) | ||
| ENST00000567879.5:c.514C>A (FANCA) | ENSP00000457006.1:p.Pro172Thr | |
| ENST00000568369.5:c.4135C>A (FANCA) | ENSP00000456829.1:p.Pro1379Thr | |
| NM_000135.2:c.4135C>A , LRG_495t1:c.4135C>A (FANCA) | NP_000126.2:p.Pro1379Thr | |
| NM_001113525.1:c.*919G>T (ZNF276) | NP_001106997.1:n.*919G>T | |
| NM_001286167.1:c.4135C>A (FANCA) | NP_001273096.1:p.Pro1379Thr | |
| NM_152287.3:c.*919G>T (ZNF276) | NP_689500.2:n.*919G>T | |
| NR_110122.1:n.2936G>T (ZNF276) | ||
| NR_110126.1:n.2819G>T (ZNF276) | ||
| NR_110128.1:n.2742G>T (ZNF276) | ||
| NR_110129.1:n.2831G>T (ZNF276) | ||
| XM_005256294.3:c.4135C>A (FANCA) | XP_005256351.1:p.Pro1379Thr | |
| XM_011522945.1:c.4006C>A (FANCA) | XP_011521247.1:p.Pro1336Thr | |
| XM_011522946.1:c.3112C>A (FANCA) | XP_011521248.1:p.Pro1038Thr | |
| XM_011522947.1:c.3112C>A (FANCA) | XP_011521249.1:p.Pro1038Thr | |
| XR_933244.1:n.4102C>A (FANCA) | ||
| XR_933245.1:n.4039C>A (FANCA) | ||
| NM_000135.3:c.4135C>A (FANCA) | NP_000126.2:p.Pro1379Thr | |
| NM_001286167.2:c.4135C>A (FANCA) | NP_001273096.1:p.Pro1379Thr | |
| XM_005256294.4:c.4135C>A (FANCA) | XP_005256351.1:p.Pro1379Thr | |
| XM_011522945.2:c.4006C>A (FANCA) | XP_011521247.1:p.Pro1336Thr | |
| XM_011522946.3:c.3112C>A (FANCA) | XP_011521248.1:p.Pro1038Thr | |
| XM_011522947.2:c.3112C>A (FANCA) | XP_011521249.1:p.Pro1038Thr | |
| XM_017023044.2:c.4006C>A (FANCA) | XP_016878533.1:p.Pro1336Thr | |
| XM_017023890.1:c.*919G>T (ZNF276) | XP_016879379.1:n.*919G>T | |
| XM_024450189.1:c.3112C>A (FANCA) | XP_024305957.1:p.Pro1038Thr | |
| XR_933244.2:n.4102C>A (FANCA) | ||
| XR_933245.2:n.4039C>A (FANCA) | ||
| XR_933484.2:n.2930G>T (ZNF276) | ||
| NM_000135.4:c.4135C>A (FANCA) MANE Select | NP_000126.2:p.Pro1379Thr | |
| NM_001113525.2:c.*919G>T (ZNF276) MANE Select | NP_001106997.1:n.*919G>T | |
| NM_001286167.3:c.4135C>A (FANCA) | NP_001273096.1:p.Pro1379Thr | |
| NM_152287.4:c.*919G>T (ZNF276) | NP_689500.2:n.*919G>T | |
| NR_110122.2:n.2919G>T (ZNF276) | ||
| NR_110126.2:n.2802G>T (ZNF276) | ||
| NR_110129.2:n.2836G>T (ZNF276) | ||
| NR_110128.2:n.2742G>T (ZNF276) |