Linked Data
ClinVar Variation Id:
302937
dbSNP Id:
rs886047822
gnomAD v3:
11-119340719-C-T
gnomAD v4:
11-119340719-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119340719C>T , CM000673.2:g.119340719C>T | GRCh38 |
| NC_000011.9:g.119211429C>T , CM000673.1:g.119211429C>T | GRCh37 |
| NC_000011.8:g.118716639C>T | NCBI36 |
| NG_012235.1:g.10955G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528368.3:c.-68G>A (C1QTNF5) MANE Select | ENSP00000431140.1:n.-68G>A | |
| ENST00000619721.6:c.*829G>A (MFRP) MANE Select | ENSP00000481824.1:n.*829G>A | |
| ENST00000525657.2:n.80G>A (C1QTNF5) | ||
| ENST00000528368.2:c.-68G>A (C1QTNF5) | ENSP00000431140.1:n.-68G>A | |
| ENST00000619721.5:c.*829G>A (MFRP) | ENSP00000481824.1:n.*829G>A | |
| ENST00000634633.1:c.-68G>A (C1QTNF5) | ENSP00000489201.1:n.-68G>A | |
| NM_001278431.1:c.-68G>A (C1QTNF5) | NP_001265360.1:n.-68G>A | |
| NM_015645.4:c.-68G>A (C1QTNF5) | NP_056460.1:n.-68G>A | |
| NM_031433.3:c.*829G>A (MFRP) | NP_113621.1:n.*829G>A | |
| NM_001278431.2:c.-68G>A (C1QTNF5) MANE Select | NP_001265360.1:n.-68G>A | |
| NM_031433.4:c.*829G>A (MFRP) MANE Select | NP_113621.1:n.*829G>A | |
| NM_015645.5:c.-68G>A (C1QTNF5) | NP_056460.1:n.-68G>A |