Linked Data
dbSNP Id:
rs778152023
ExAC:
11:22647169 T / A
gnomAD v2:
11-22647169-T-A
gnomAD v4:
11-22625623-T-A
MyVariant Identifiers:
chr11:g.22647169T>A (hg19)
chr11:g.22647169_22647170delinsAG (hg19)
chr11:g.22625623T>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625623T>A , CM000673.2:g.22625623T>A | GRCh38 |
| NC_000011.9:g.22647169T>A , CM000673.1:g.22647169T>A | GRCh37 |
| NC_000011.8:g.22603745T>A | NCBI36 |
| NG_007425.1:g.5219A>T , LRG_527:g.5219A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.188A>T (FANCF) MANE Select | ENSP00000330875.3:p.His63Leu | |
| ENST00000648096.1:n.115T>A (GAS2) | ||
| ENST00000327470.4:c.188A>T (FANCF) | ENSP00000330875.3:p.His63Leu | |
| NM_022725.3:c.188A>T , LRG_527t1:c.188A>T (FANCF) | NP_073562.1:p.His63Leu | |
| NM_022725.4:c.188A>T (FANCF) MANE Select | NP_073562.1:p.His63Leu |