Linked Data
ClinVar Variation Id:
134329
dbSNP Id:
rs78896323
ExAC:
3:10140614 C / A
gnomAD v2:
3-10140614-C-A
gnomAD v3:
3-10098930-C-A
gnomAD v4:
3-10098930-C-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10098930C>A , CM000665.2:g.10098930C>A | GRCh38 |
| NC_000003.11:g.10140614C>A , CM000665.1:g.10140614C>A | GRCh37 |
| NC_000003.10:g.10115614C>A | NCBI36 |
| NG_007311.1:g.77502C>A , LRG_306:g.77502C>A | |
| NG_042053.1:g.14302G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681997.1:n.3480C>A (FANCD2) | ||
| ENST00000683263.1:n.3395C>A (FANCD2) | ||
| ENST00000683312.1:n.3947C>A (FANCD2) | ||
| ENST00000675286.1:c.4281+115C>A (FANCD2) MANE Select | ENSP00000502379.1:n.4281+115C>A | |
| ENST00000676013.1:c.4170+115C>A (FANCD2) | ENSP00000501999.1:n.4170+115C>A | |
| ENST00000287647.7:c.4396C>A (FANCD2) | ENSP00000287647.3:p.Pro1466Thr | |
| ENST00000383807.5:c.4281+115C>A (FANCD2) | ENSP00000373318.1:n.4281+115C>A | |
| ENST00000419585.5:c.4281+115C>A (FANCD2) | ENSP00000398754.1:n.4281+115C>A | |
| ENST00000421731.5:c.2686+115C>A (FANCD2) | ||
| ENST00000431315.5:n.71-4040G>T (FANCD2OS) | ||
| ENST00000470028.1:n.354+115C>A (FANCD2) | ||
| ENST00000524279.1:c.*43+5268G>T (FANCD2OS) | ENSP00000429663.1:n.*43+5268G>T | |
| NM_001018115.1:c.4281+115C>A , LRG_306t1:c.4281+115C>A (FANCD2) | NP_001018125.1:n.4281+115C>A | |
| NM_033084.3:c.4396C>A , LRG_306t2:c.4396C>A (FANCD2) | NP_149075.2:p.Pro1466Thr | |
| NM_173472.1:c.*43+5268G>T (FANCD2OS) | NP_775743.1:n.*43+5268G>T | |
| XM_005264946.2:c.4281+115C>A (FANCD2) | XP_005265003.1:n.4281+115C>A | |
| XM_005264947.2:c.2401C>A (FANCD2) | XP_005265004.1:p.Pro801Thr | |
| XM_006713021.2:c.4396C>A (FANCD2) | XP_006713084.1:p.Pro1466Thr | |
| XM_006713023.2:c.4357C>A (FANCD2) | XP_006713086.1:p.Pro1453Thr | |
| XM_006713024.2:c.4279C>A (FANCD2) | XP_006713087.1:p.Pro1427Thr | |
| XM_011533480.1:c.3247C>A (FANCD2) | XP_011531782.1:p.Pro1083Thr | |
| NM_001018115.2:c.4281+115C>A (FANCD2) | NP_001018125.1:n.4281+115C>A | |
| NM_001319984.1:c.4281+115C>A (FANCD2) | NP_001306913.1:n.4281+115C>A | |
| NM_033084.4:c.4396C>A (FANCD2) | NP_149075.2:p.Pro1466Thr | |
| NM_001018115.3:c.4281+115C>A (FANCD2) MANE Select | NP_001018125.1:n.4281+115C>A | |
| NM_001319984.2:c.4281+115C>A (FANCD2) | NP_001306913.1:n.4281+115C>A | |
| NM_001374253.1:c.4170+115C>A (FANCD2) | NP_001361182.1:n.4170+115C>A | |
| NM_001374254.1:c.4357C>A (FANCD2) | NP_001361183.1:p.Pro1453Thr | |
| NM_033084.6:c.4396C>A (FANCD2) | NP_149075.2:p.Pro1466Thr | |
| NM_173472.2:c.*43+5268G>T (FANCD2OS) | NP_775743.1:n.*43+5268G>T |