Linked Data
ClinVar Variation Id:
134280
dbSNP Id:
rs149775657
ExAC:
16:89805693 G / A
gnomAD v2:
16-89805693-G-A
gnomAD v3:
16-89739285-G-A
gnomAD v4:
16-89739285-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89739285G>A , CM000678.2:g.89739285G>A | GRCh38 |
| NC_000016.9:g.89805693G>A , CM000678.1:g.89805693G>A | GRCh37 |
| NC_000016.8:g.88333194G>A | NCBI36 |
| NG_011706.1:g.82373C>T , LRG_495:g.82373C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2588C>T (FANCA) | ENSP00000512522.1:n.*2588C>T | |
| ENST00000564475.6:c.4015C>T (FANCA) | ENSP00000454977.2:p.Leu1339Phe | |
| ENST00000567510.2:c.2585C>T (FANCA) | ENSP00000455969.1:n.2585C>T | |
| ENST00000568369.6:c.4015C>T (FANCA) | ENSP00000456829.1:p.Leu1339Phe | |
| ENST00000696274.1:n.3976C>T (FANCA) | ||
| ENST00000696275.1:c.*3250C>T (FANCA) | ENSP00000512517.1:n.*3250C>T | |
| ENST00000696286.1:c.3939C>T (FANCA) | ENSP00000512523.1:p.Phe1313= | |
| ENST00000696287.1:c.3886C>T (FANCA) | ENSP00000512524.1:p.Leu1296Phe | |
| ENST00000696291.1:c.*3447C>T (FANCA) | ENSP00000512530.1:n.*3447C>T | |
| ENST00000389301.8:c.4015C>T (FANCA) MANE Select | ENSP00000373952.3:p.Leu1339Phe | |
| ENST00000443381.7:c.*1039G>A (ZNF276) MANE Select | ENSP00000415836.2:n.*1039G>A | |
| ENST00000289816.9:c.*1039G>A (ZNF276) | ENSP00000289816.5:n.*1039G>A | |
| ENST00000389301.7:c.4015C>T (FANCA) | ENSP00000373952.3:p.Leu1339Phe | |
| ENST00000561722.5:c.166C>T (FANCA) | ENSP00000456608.1:p.Leu56Phe | |
| ENST00000562424.1:n.286C>T (FANCA) | ||
| ENST00000563983.5:n.2872G>A (ZNF276) | ||
| ENST00000564475.5:c.345C>T (FANCA) | ||
| ENST00000564870.1:c.216C>T (FANCA) | ||
| ENST00000567879.5:c.413-19C>T (FANCA) | ENSP00000457006.1:n.413-19C>T | |
| ENST00000568369.5:c.4015C>T (FANCA) | ENSP00000456829.1:p.Leu1339Phe | |
| ENST00000568626.1:c.724C>T (FANCA) | ||
| NM_000135.2:c.4015C>T , LRG_495t1:c.4015C>T (FANCA) | NP_000126.2:p.Leu1339Phe | |
| NM_001113525.1:c.*1039G>A (ZNF276) | NP_001106997.1:n.*1039G>A | |
| NM_001286167.1:c.4015C>T (FANCA) | NP_001273096.1:p.Leu1339Phe | |
| NM_152287.3:c.*1039G>A (ZNF276) | NP_689500.2:n.*1039G>A | |
| NR_110122.1:n.3056G>A (ZNF276) | ||
| NR_110126.1:n.2939G>A (ZNF276) | ||
| NR_110128.1:n.2862G>A (ZNF276) | ||
| NR_110129.1:n.2951G>A (ZNF276) | ||
| XM_005256294.3:c.4015C>T (FANCA) | XP_005256351.1:p.Leu1339Phe | |
| XM_011522945.1:c.3886C>T (FANCA) | XP_011521247.1:p.Leu1296Phe | |
| XM_011522946.1:c.2992C>T (FANCA) | XP_011521248.1:p.Leu998Phe | |
| XM_011522947.1:c.2992C>T (FANCA) | XP_011521249.1:p.Leu998Phe | |
| XR_933244.1:n.3982C>T (FANCA) | ||
| XR_933245.1:n.3919C>T (FANCA) | ||
| NM_000135.3:c.4015C>T (FANCA) | NP_000126.2:p.Leu1339Phe | |
| NM_001286167.2:c.4015C>T (FANCA) | NP_001273096.1:p.Leu1339Phe | |
| XM_005256294.4:c.4015C>T (FANCA) | XP_005256351.1:p.Leu1339Phe | |
| XM_011522945.2:c.3886C>T (FANCA) | XP_011521247.1:p.Leu1296Phe | |
| XM_011522946.3:c.2992C>T (FANCA) | XP_011521248.1:p.Leu998Phe | |
| XM_011522947.2:c.2992C>T (FANCA) | XP_011521249.1:p.Leu998Phe | |
| XM_017023044.2:c.3886C>T (FANCA) | XP_016878533.1:p.Leu1296Phe | |
| XM_017023890.1:c.*1039G>A (ZNF276) | XP_016879379.1:n.*1039G>A | |
| XM_024450189.1:c.2992C>T (FANCA) | XP_024305957.1:p.Leu998Phe | |
| XR_001751866.1:n.3885C>T (FANCA) | ||
| XR_933244.2:n.3982C>T (FANCA) | ||
| XR_933245.2:n.3919C>T (FANCA) | ||
| XR_933484.2:n.3050G>A (ZNF276) | ||
| NM_000135.4:c.4015C>T (FANCA) MANE Select | NP_000126.2:p.Leu1339Phe | |
| NM_001113525.2:c.*1039G>A (ZNF276) MANE Select | NP_001106997.1:n.*1039G>A | |
| NM_001286167.3:c.4015C>T (FANCA) | NP_001273096.1:p.Leu1339Phe | |
| NM_152287.4:c.*1039G>A (ZNF276) | NP_689500.2:n.*1039G>A | |
| NR_110122.2:n.3039G>A (ZNF276) | ||
| NR_110126.2:n.2922G>A (ZNF276) | ||
| NR_110129.2:n.2956G>A (ZNF276) | ||
| NR_110128.2:n.2862G>A (ZNF276) |