Linked Data
ClinVar Variation Id:
194544
dbSNP Id:
rs540768941
ExAC:
11:119210479 G / A
gnomAD v2:
11-119210479-G-A
gnomAD v3:
11-119339769-G-A
gnomAD v4:
11-119339769-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119339769G>A , CM000673.2:g.119339769G>A | GRCh38 |
| NC_000011.9:g.119210479G>A , CM000673.1:g.119210479G>A | GRCh37 |
| NC_000011.8:g.118715689G>A | NCBI36 |
| NG_012235.1:g.11905C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528368.3:c.294C>T (C1QTNF5) MANE Select | ENSP00000431140.1:p.Cys98= | |
| ENST00000619721.6:c.*1190C>T (MFRP) MANE Select | ENSP00000481824.1:n.*1190C>T | |
| ENST00000525657.2:n.184C>T (C1QTNF5) | ||
| ENST00000528368.2:c.294C>T (C1QTNF5) | ENSP00000431140.1:p.Cys98= | |
| ENST00000530681.2:c.294C>T (C1QTNF5) | ENSP00000456533.2:p.Cys98= | |
| ENST00000619721.5:c.*1190C>T (MFRP) | ENSP00000481824.1:n.*1190C>T | |
| NM_001278431.1:c.294C>T (C1QTNF5) | NP_001265360.1:p.Cys98= | |
| NM_015645.4:c.294C>T (C1QTNF5) | NP_056460.1:p.Cys98= | |
| NM_031433.3:c.*1190C>T (MFRP) | NP_113621.1:n.*1190C>T | |
| NM_001278431.2:c.294C>T (C1QTNF5) MANE Select | NP_001265360.1:p.Cys98= | |
| NM_031433.4:c.*1190C>T (MFRP) MANE Select | NP_113621.1:n.*1190C>T | |
| NM_015645.5:c.294C>T (C1QTNF5) | NP_056460.1:p.Cys98= |