Linked Data
ClinVar Variation Id:
408170
dbSNP Id:
rs139478274
ExAC:
16:89805325 G / A
gnomAD v2:
16-89805325-G-A
gnomAD v3:
16-89738917-G-A
gnomAD v4:
16-89738917-G-A
COSMIC:
COSM2923605
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89738917G>A , CM000678.2:g.89738917G>A | GRCh38 |
| NC_000016.9:g.89805325G>A , CM000678.1:g.89805325G>A | GRCh37 |
| NC_000016.8:g.88332826G>A | NCBI36 |
| NG_011706.1:g.82741C>T , LRG_495:g.82741C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2798C>T (FANCA) | ENSP00000512522.1:n.*2798C>T | |
| ENST00000564475.6:c.4229C>T (FANCA) | ENSP00000454977.2:p.Ser1410Leu | |
| ENST00000567510.2:c.2799C>T (FANCA) | ENSP00000455969.1:n.2799C>T | |
| ENST00000568369.6:c.4229C>T (FANCA) | ENSP00000456829.1:p.Ser1410Leu | |
| ENST00000696274.1:n.4186C>T (FANCA) | ||
| ENST00000696275.1:c.*3464C>T (FANCA) | ENSP00000512517.1:n.*3464C>T | |
| ENST00000696286.1:c.*138C>T (FANCA) | ENSP00000512523.1:n.*138C>T | |
| ENST00000696287.1:c.4100C>T (FANCA) | ENSP00000512524.1:p.Ser1367Leu | |
| ENST00000696291.1:c.*3657C>T (FANCA) | ENSP00000512530.1:n.*3657C>T | |
| ENST00000389301.8:c.4225C>T (FANCA) MANE Select | ENSP00000373952.3:p.Arg1409Trp | |
| ENST00000443381.7:c.*671G>A (ZNF276) MANE Select | ENSP00000415836.2:n.*671G>A | |
| ENST00000289816.9:c.*671G>A (ZNF276) | ENSP00000289816.5:n.*671G>A | |
| ENST00000389301.7:c.4225C>T (FANCA) | ENSP00000373952.3:p.Arg1409Trp | |
| ENST00000561722.5:c.445C>T (FANCA) | ENSP00000456608.1:p.Arg149Trp | |
| ENST00000562424.1:n.496C>T (FANCA) | ||
| ENST00000563983.5:n.2504G>A (ZNF276) | ||
| ENST00000564475.5:c.559C>T (FANCA) | ||
| ENST00000564870.1:c.426C>T (FANCA) | ||
| ENST00000567879.5:c.599C>T (FANCA) | ENSP00000457006.1:p.Ser200Leu | |
| ENST00000568369.5:c.4229C>T (FANCA) | ENSP00000456829.1:p.Ser1410Leu | |
| NM_000135.2:c.4225C>T , LRG_495t1:c.4225C>T (FANCA) | NP_000126.2:p.Arg1409Trp | |
| NM_001113525.1:c.*671G>A (ZNF276) | NP_001106997.1:n.*671G>A | |
| NM_001286167.1:c.4229C>T (FANCA) | NP_001273096.1:p.Ser1410Leu | |
| NM_152287.3:c.*671G>A (ZNF276) | NP_689500.2:n.*671G>A | |
| NR_110122.1:n.2688G>A (ZNF276) | ||
| NR_110126.1:n.2571G>A (ZNF276) | ||
| NR_110128.1:n.2494G>A (ZNF276) | ||
| NR_110129.1:n.2583G>A (ZNF276) | ||
| XM_005256294.3:c.4229C>T (FANCA) | XP_005256351.1:p.Ser1410Leu | |
| XM_011522945.1:c.4100C>T (FANCA) | XP_011521247.1:p.Ser1367Leu | |
| XM_011522946.1:c.3206C>T (FANCA) | XP_011521248.1:p.Ser1069Leu | |
| XM_011522947.1:c.3206C>T (FANCA) | XP_011521249.1:p.Ser1069Leu | |
| XR_933244.1:n.4192C>T (FANCA) | ||
| XR_933245.1:n.4129C>T (FANCA) | ||
| NM_000135.3:c.4225C>T (FANCA) | NP_000126.2:p.Arg1409Trp | |
| NM_001286167.2:c.4229C>T (FANCA) | NP_001273096.1:p.Ser1410Leu | |
| XM_005256294.4:c.4229C>T (FANCA) | XP_005256351.1:p.Ser1410Leu | |
| XM_011522945.2:c.4100C>T (FANCA) | XP_011521247.1:p.Ser1367Leu | |
| XM_011522946.3:c.3206C>T (FANCA) | XP_011521248.1:p.Ser1069Leu | |
| XM_011522947.2:c.3206C>T (FANCA) | XP_011521249.1:p.Ser1069Leu | |
| XM_017023044.2:c.4096C>T (FANCA) | XP_016878533.1:p.Arg1366Trp | |
| XM_017023890.1:c.*671G>A (ZNF276) | XP_016879379.1:n.*671G>A | |
| XM_024450189.1:c.3206C>T (FANCA) | XP_024305957.1:p.Ser1069Leu | |
| XR_933244.2:n.4192C>T (FANCA) | ||
| XR_933245.2:n.4129C>T (FANCA) | ||
| XR_933484.2:n.2682G>A (ZNF276) | ||
| NM_000135.4:c.4225C>T (FANCA) MANE Select | NP_000126.2:p.Arg1409Trp | |
| NM_001113525.2:c.*671G>A (ZNF276) MANE Select | NP_001106997.1:n.*671G>A | |
| NM_001286167.3:c.4229C>T (FANCA) | NP_001273096.1:p.Ser1410Leu | |
| NM_152287.4:c.*671G>A (ZNF276) | NP_689500.2:n.*671G>A | |
| NR_110122.2:n.2671G>A (ZNF276) | ||
| NR_110126.2:n.2554G>A (ZNF276) | ||
| NR_110129.2:n.2588G>A (ZNF276) | ||
| NR_110128.2:n.2494G>A (ZNF276) |