Linked Data
ClinVar Variation Id:
456123
dbSNP Id:
rs1432988639
gnomAD v2:
16-89807211-C-G
gnomAD v3:
16-89740803-C-G
gnomAD v4:
16-89740803-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89740803C>G , CM000678.2:g.89740803C>G | GRCh38 |
| NC_000016.9:g.89807211C>G , CM000678.1:g.89807211C>G | GRCh37 |
| NC_000016.8:g.88334712C>G | NCBI36 |
| NG_011706.1:g.80855G>C , LRG_495:g.80855G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2306+1G>C (FANCA) | ENSP00000512522.1:n.*2306+1G>C | |
| ENST00000564475.6:c.3828+1G>C (FANCA) | ENSP00000454977.2:n.3828+1G>C | |
| ENST00000567510.2:c.2398+1G>C (FANCA) | ENSP00000455969.1:n.2398+1G>C | |
| ENST00000568369.6:c.3828+1G>C (FANCA) | ENSP00000456829.1:n.3828+1G>C | |
| ENST00000696274.1:n.3789+1G>C (FANCA) | ||
| ENST00000696275.1:c.*3063+1G>C (FANCA) | ENSP00000512517.1:n.*3063+1G>C | |
| ENST00000696286.1:c.3828+1G>C (FANCA) | ENSP00000512523.1:n.3828+1G>C | |
| ENST00000696287.1:c.3699+1G>C (FANCA) | ENSP00000512524.1:n.3699+1G>C | |
| ENST00000696291.1:c.*3260+1G>C (FANCA) | ENSP00000512530.1:n.*3260+1G>C | |
| ENST00000389301.8:c.3828+1G>C (FANCA) MANE Select | ENSP00000373952.3:n.3828+1G>C | |
| ENST00000443381.7:c.*2557C>G (ZNF276) MANE Select | ENSP00000415836.2:n.*2557C>G | |
| ENST00000289816.9:c.*2557C>G (ZNF276) | ENSP00000289816.5:n.*2557C>G | |
| ENST00000305699.15:n.1071+1G>C (FANCA) | ||
| ENST00000389301.7:c.3828+1G>C (FANCA) | ENSP00000373952.3:n.3828+1G>C | |
| ENST00000564475.5:c.158+1G>C (FANCA) | ||
| ENST00000564870.1:c.30-704G>C (FANCA) | ||
| ENST00000564969.5:n.113+1G>C (FANCA) | ||
| ENST00000567879.5:c.306+1G>C (FANCA) | ENSP00000457006.1:n.306+1G>C | |
| ENST00000568369.5:c.3828+1G>C (FANCA) | ENSP00000456829.1:n.3828+1G>C | |
| ENST00000568626.1:c.537+1G>C (FANCA) | ||
| NM_000135.2:c.3828+1G>C , LRG_495t1:c.3828+1G>C (FANCA) | NP_000126.2:n.3828+1G>C | |
| NM_001113525.1:c.*2557C>G (ZNF276) | NP_001106997.1:n.*2557C>G | |
| NM_001286167.1:c.3828+1G>C (FANCA) | NP_001273096.1:n.3828+1G>C | |
| NM_152287.3:c.*2557C>G (ZNF276) | NP_689500.2:n.*2557C>G | |
| XM_005256294.3:c.3828+1G>C (FANCA) | XP_005256351.1:n.3828+1G>C | |
| XM_011522945.1:c.3699+1G>C (FANCA) | XP_011521247.1:n.3699+1G>C | |
| XM_011522946.1:c.2805+1G>C (FANCA) | XP_011521248.1:n.2805+1G>C | |
| XM_011522947.1:c.2805+1G>C (FANCA) | XP_011521249.1:n.2805+1G>C | |
| XR_933244.1:n.3871+1G>C (FANCA) | ||
| XR_933245.1:n.3732+1G>C (FANCA) | ||
| XR_933246.1:n.3698+1G>C (FANCA) | ||
| NM_000135.3:c.3828+1G>C (FANCA) | NP_000126.2:n.3828+1G>C | |
| NM_001286167.2:c.3828+1G>C (FANCA) | NP_001273096.1:n.3828+1G>C | |
| XM_005256294.4:c.3828+1G>C (FANCA) | XP_005256351.1:n.3828+1G>C | |
| XM_011522945.2:c.3699+1G>C (FANCA) | XP_011521247.1:n.3699+1G>C | |
| XM_011522946.3:c.2805+1G>C (FANCA) | XP_011521248.1:n.2805+1G>C | |
| XM_011522947.2:c.2805+1G>C (FANCA) | XP_011521249.1:n.2805+1G>C | |
| XM_017023044.2:c.3699+1G>C (FANCA) | XP_016878533.1:n.3699+1G>C | |
| XM_024450189.1:c.2805+1G>C (FANCA) | XP_024305957.1:n.2805+1G>C | |
| XR_001751866.1:n.3698+1G>C (FANCA) | ||
| XR_933244.2:n.3871+1G>C (FANCA) | ||
| XR_933245.2:n.3732+1G>C (FANCA) | ||
| NM_000135.4:c.3828+1G>C (FANCA) MANE Select | NP_000126.2:n.3828+1G>C | |
| NM_001113525.2:c.*2557C>G (ZNF276) MANE Select | NP_001106997.1:n.*2557C>G | |
| NM_001286167.3:c.3828+1G>C (FANCA) | NP_001273096.1:n.3828+1G>C | |
| NM_152287.4:c.*2557C>G (ZNF276) | NP_689500.2:n.*2557C>G | |
| NR_110122.2:n.4557C>G (ZNF276) | ||
| NR_110126.2:n.4440C>G (ZNF276) | ||
| NR_110129.2:n.4474C>G (ZNF276) | ||
| NR_110128.2:n.4380C>G (ZNF276) |