Linked Data
ClinVar Variation Id:
429862
dbSNP Id:
rs753944130
ExAC:
16:89805591 T / C
gnomAD v2:
16-89805591-T-C
gnomAD v3:
16-89739183-T-C
gnomAD v4:
16-89739183-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89739183T>C , CM000678.2:g.89739183T>C | GRCh38 |
| NC_000016.9:g.89805591T>C , CM000678.1:g.89805591T>C | GRCh37 |
| NC_000016.8:g.88333092T>C | NCBI36 |
| NG_011706.1:g.82475A>G , LRG_495:g.82475A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2690A>G (FANCA) | ENSP00000512522.1:n.*2690A>G | |
| ENST00000564475.6:c.4117A>G (FANCA) | ENSP00000454977.2:p.Thr1373Ala | |
| ENST00000567510.2:c.2687A>G (FANCA) | ENSP00000455969.1:n.2687A>G | |
| ENST00000568369.6:c.4117A>G (FANCA) | ENSP00000456829.1:p.Thr1373Ala | |
| ENST00000696274.1:n.4078A>G (FANCA) | ||
| ENST00000696275.1:c.*3352A>G (FANCA) | ENSP00000512517.1:n.*3352A>G | |
| ENST00000696286.1:c.*30A>G (FANCA) | ENSP00000512523.1:n.*30A>G | |
| ENST00000696287.1:c.3988A>G (FANCA) | ENSP00000512524.1:p.Thr1330Ala | |
| ENST00000696291.1:c.*3549A>G (FANCA) | ENSP00000512530.1:n.*3549A>G | |
| ENST00000389301.8:c.4117A>G (FANCA) MANE Select | ENSP00000373952.3:p.Thr1373Ala | |
| ENST00000443381.7:c.*937T>C (ZNF276) MANE Select | ENSP00000415836.2:n.*937T>C | |
| ENST00000289816.9:c.*937T>C (ZNF276) | ENSP00000289816.5:n.*937T>C | |
| ENST00000389301.7:c.4117A>G (FANCA) | ENSP00000373952.3:p.Thr1373Ala | |
| ENST00000561722.5:c.268A>G (FANCA) | ENSP00000456608.1:p.Thr90Ala | |
| ENST00000562424.1:n.388A>G (FANCA) | ||
| ENST00000563983.5:n.2770T>C (ZNF276) | ||
| ENST00000564475.5:c.447A>G (FANCA) | ||
| ENST00000564870.1:c.318A>G (FANCA) | ||
| ENST00000567879.5:c.496A>G (FANCA) | ENSP00000457006.1:p.Thr166Ala | |
| ENST00000568369.5:c.4117A>G (FANCA) | ENSP00000456829.1:p.Thr1373Ala | |
| NM_000135.2:c.4117A>G , LRG_495t1:c.4117A>G (FANCA) | NP_000126.2:p.Thr1373Ala | |
| NM_001113525.1:c.*937T>C (ZNF276) | NP_001106997.1:n.*937T>C | |
| NM_001286167.1:c.4117A>G (FANCA) | NP_001273096.1:p.Thr1373Ala | |
| NM_152287.3:c.*937T>C (ZNF276) | NP_689500.2:n.*937T>C | |
| NR_110122.1:n.2954T>C (ZNF276) | ||
| NR_110126.1:n.2837T>C (ZNF276) | ||
| NR_110128.1:n.2760T>C (ZNF276) | ||
| NR_110129.1:n.2849T>C (ZNF276) | ||
| XM_005256294.3:c.4117A>G (FANCA) | XP_005256351.1:p.Thr1373Ala | |
| XM_011522945.1:c.3988A>G (FANCA) | XP_011521247.1:p.Thr1330Ala | |
| XM_011522946.1:c.3094A>G (FANCA) | XP_011521248.1:p.Thr1032Ala | |
| XM_011522947.1:c.3094A>G (FANCA) | XP_011521249.1:p.Thr1032Ala | |
| XR_933244.1:n.4084A>G (FANCA) | ||
| XR_933245.1:n.4021A>G (FANCA) | ||
| NM_000135.3:c.4117A>G (FANCA) | NP_000126.2:p.Thr1373Ala | |
| NM_001286167.2:c.4117A>G (FANCA) | NP_001273096.1:p.Thr1373Ala | |
| XM_005256294.4:c.4117A>G (FANCA) | XP_005256351.1:p.Thr1373Ala | |
| XM_011522945.2:c.3988A>G (FANCA) | XP_011521247.1:p.Thr1330Ala | |
| XM_011522946.3:c.3094A>G (FANCA) | XP_011521248.1:p.Thr1032Ala | |
| XM_011522947.2:c.3094A>G (FANCA) | XP_011521249.1:p.Thr1032Ala | |
| XM_017023044.2:c.3988A>G (FANCA) | XP_016878533.1:p.Thr1330Ala | |
| XM_017023890.1:c.*937T>C (ZNF276) | XP_016879379.1:n.*937T>C | |
| XM_024450189.1:c.3094A>G (FANCA) | XP_024305957.1:p.Thr1032Ala | |
| XR_933244.2:n.4084A>G (FANCA) | ||
| XR_933245.2:n.4021A>G (FANCA) | ||
| XR_933484.2:n.2948T>C (ZNF276) | ||
| NM_000135.4:c.4117A>G (FANCA) MANE Select | NP_000126.2:p.Thr1373Ala | |
| NM_001113525.2:c.*937T>C (ZNF276) MANE Select | NP_001106997.1:n.*937T>C | |
| NM_001286167.3:c.4117A>G (FANCA) | NP_001273096.1:p.Thr1373Ala | |
| NM_152287.4:c.*937T>C (ZNF276) | NP_689500.2:n.*937T>C | |
| NR_110122.2:n.2937T>C (ZNF276) | ||
| NR_110126.2:n.2820T>C (ZNF276) | ||
| NR_110129.2:n.2854T>C (ZNF276) | ||
| NR_110128.2:n.2760T>C (ZNF276) |