Linked Data
ClinVar Variation Id:
1553515
ClinVar RCV Id:
RCV002187597
dbSNP Id:
rs151253274
MyVariant Identifiers:
chr11:g.22647261G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625715G>C , CM000673.2:g.22625715G>C | GRCh38 |
| NC_000011.9:g.22647261G>C , CM000673.1:g.22647261G>C | GRCh37 |
| NC_000011.8:g.22603837G>C | NCBI36 |
| NG_007425.1:g.5127C>G , LRG_527:g.5127C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.96C>G (FANCF) MANE Select | ENSP00000330875.3:p.Arg32= | |
| ENST00000648096.1:n.207G>C (GAS2) | ||
| ENST00000327470.4:c.96C>G (FANCF) | ENSP00000330875.3:p.Arg32= | |
| ENST00000528582.5:c.-119G>C (GAS2) | ENSP00000432584.1:n.-119G>C | |
| NM_022725.3:c.96C>G , LRG_527t1:c.96C>G (FANCF) | NP_073562.1:p.Arg32= | |
| NM_022725.4:c.96C>G (FANCF) MANE Select | NP_073562.1:p.Arg32= |