Linked Data
ClinVar Variation Id:
554887
dbSNP Id:
rs745882980
ExAC:
16:89805352 G / A
gnomAD v2:
16-89805352-G-A
gnomAD v3:
16-89738944-G-A
gnomAD v4:
16-89738944-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89738944G>A , CM000678.2:g.89738944G>A | GRCh38 |
| NC_000016.9:g.89805352G>A , CM000678.1:g.89805352G>A | GRCh37 |
| NC_000016.8:g.88332853G>A | NCBI36 |
| NG_011706.1:g.82714C>T , LRG_495:g.82714C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2771C>T (FANCA) | ENSP00000512522.1:n.*2771C>T | |
| ENST00000564475.6:c.4202C>T (FANCA) | ENSP00000454977.2:p.Ser1401Leu | |
| ENST00000567510.2:c.2772C>T (FANCA) | ENSP00000455969.1:n.2772C>T | |
| ENST00000568369.6:c.4202C>T (FANCA) | ENSP00000456829.1:p.Ser1401Leu | |
| ENST00000696274.1:n.4159C>T (FANCA) | ||
| ENST00000696275.1:c.*3437C>T (FANCA) | ENSP00000512517.1:n.*3437C>T | |
| ENST00000696286.1:c.*111C>T (FANCA) | ENSP00000512523.1:n.*111C>T | |
| ENST00000696287.1:c.4073C>T (FANCA) | ENSP00000512524.1:p.Ser1358Leu | |
| ENST00000696291.1:c.*3630C>T (FANCA) | ENSP00000512530.1:n.*3630C>T | |
| ENST00000389301.8:c.4198C>T (FANCA) MANE Select | ENSP00000373952.3:p.Arg1400Cys | |
| ENST00000443381.7:c.*698G>A (ZNF276) MANE Select | ENSP00000415836.2:n.*698G>A | |
| ENST00000289816.9:c.*698G>A (ZNF276) | ENSP00000289816.5:n.*698G>A | |
| ENST00000389301.7:c.4198C>T (FANCA) | ENSP00000373952.3:p.Arg1400Cys | |
| ENST00000561722.5:c.436-18C>T (FANCA) | ENSP00000456608.1:n.436-18C>T | |
| ENST00000562424.1:n.469C>T (FANCA) | ||
| ENST00000563983.5:n.2531G>A (ZNF276) | ||
| ENST00000564475.5:c.532C>T (FANCA) | ||
| ENST00000564870.1:c.399C>T (FANCA) | ||
| ENST00000567879.5:c.572C>T (FANCA) | ENSP00000457006.1:p.Ser191Leu | |
| ENST00000568369.5:c.4202C>T (FANCA) | ENSP00000456829.1:p.Ser1401Leu | |
| NM_000135.2:c.4198C>T , LRG_495t1:c.4198C>T (FANCA) | NP_000126.2:p.Arg1400Cys | |
| NM_001113525.1:c.*698G>A (ZNF276) | NP_001106997.1:n.*698G>A | |
| NM_001286167.1:c.4202C>T (FANCA) | NP_001273096.1:p.Ser1401Leu | |
| NM_152287.3:c.*698G>A (ZNF276) | NP_689500.2:n.*698G>A | |
| NR_110122.1:n.2715G>A (ZNF276) | ||
| NR_110126.1:n.2598G>A (ZNF276) | ||
| NR_110128.1:n.2521G>A (ZNF276) | ||
| NR_110129.1:n.2610G>A (ZNF276) | ||
| XM_005256294.3:c.4202C>T (FANCA) | XP_005256351.1:p.Ser1401Leu | |
| XM_011522945.1:c.4073C>T (FANCA) | XP_011521247.1:p.Ser1358Leu | |
| XM_011522946.1:c.3179C>T (FANCA) | XP_011521248.1:p.Ser1060Leu | |
| XM_011522947.1:c.3179C>T (FANCA) | XP_011521249.1:p.Ser1060Leu | |
| XR_933244.1:n.4165C>T (FANCA) | ||
| XR_933245.1:n.4102C>T (FANCA) | ||
| NM_000135.3:c.4198C>T (FANCA) | NP_000126.2:p.Arg1400Cys | |
| NM_001286167.2:c.4202C>T (FANCA) | NP_001273096.1:p.Ser1401Leu | |
| XM_005256294.4:c.4202C>T (FANCA) | XP_005256351.1:p.Ser1401Leu | |
| XM_011522945.2:c.4073C>T (FANCA) | XP_011521247.1:p.Ser1358Leu | |
| XM_011522946.3:c.3179C>T (FANCA) | XP_011521248.1:p.Ser1060Leu | |
| XM_011522947.2:c.3179C>T (FANCA) | XP_011521249.1:p.Ser1060Leu | |
| XM_017023044.2:c.4069C>T (FANCA) | XP_016878533.1:p.Arg1357Cys | |
| XM_017023890.1:c.*698G>A (ZNF276) | XP_016879379.1:n.*698G>A | |
| XM_024450189.1:c.3179C>T (FANCA) | XP_024305957.1:p.Ser1060Leu | |
| XR_933244.2:n.4165C>T (FANCA) | ||
| XR_933245.2:n.4102C>T (FANCA) | ||
| XR_933484.2:n.2709G>A (ZNF276) | ||
| NM_000135.4:c.4198C>T (FANCA) MANE Select | NP_000126.2:p.Arg1400Cys | |
| NM_001113525.2:c.*698G>A (ZNF276) MANE Select | NP_001106997.1:n.*698G>A | |
| NM_001286167.3:c.4202C>T (FANCA) | NP_001273096.1:p.Ser1401Leu | |
| NM_152287.4:c.*698G>A (ZNF276) | NP_689500.2:n.*698G>A | |
| NR_110122.2:n.2698G>A (ZNF276) | ||
| NR_110126.2:n.2581G>A (ZNF276) | ||
| NR_110129.2:n.2615G>A (ZNF276) | ||
| NR_110128.2:n.2521G>A (ZNF276) |