Linked Data
ClinVar Variation Id:
422529
ClinVar RCV Id:
RCV000485420
dbSNP Id:
rs1064795839
gnomAD v4:
3-15453848-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15453848A>G , CM000665.2:g.15453848A>G | GRCh38 |
| NC_000003.11:g.15495355A>G , CM000665.1:g.15495355A>G | GRCh37 |
| NC_000003.10:g.15470359A>G | NCBI36 |
| NG_009032.1:g.72904T>C | |
| NG_009032.2:g.72904T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000608408.2:n.110T>C (EAF1-AS1) | ||
| ENST00000629729.3:c.126T>C | ENSP00000518887.1:n.126T>C | |
| ENST00000383788.10:c.1279T>C (COLQ) MANE Select | ENSP00000373298.3:p.Cys427Arg | |
| ENST00000604401.2:n.1135T>C (COLQ) | ||
| ENST00000679838.1:c.*1041T>C (COLQ) | ENSP00000505708.1:n.*1041T>C | |
| ENST00000680240.1:n.1191T>C (COLQ) | ||
| ENST00000680545.1:n.1045T>C (COLQ) | ||
| ENST00000680897.1:n.744T>C (COLQ) | ||
| ENST00000681097.1:c.*293T>C (COLQ) | ENSP00000505397.1:n.*293T>C | |
| ENST00000681222.1:n.4770T>C (COLQ) | ||
| ENST00000383781.8:c.1249T>C (COLQ) | ENSP00000373291.3:p.Cys417Arg | |
| ENST00000383786.9:c.1177T>C (COLQ) | ENSP00000373296.3:p.Cys393Arg | |
| ENST00000383788.9:c.1279T>C (COLQ) | ENSP00000373298.3:p.Cys427Arg | |
| ENST00000603808.5:c.1282T>C (COLQ) | ENSP00000474271.1:p.Cys428Arg | |
| NM_005677.3:c.1279T>C (COLQ) | NP_005668.2:p.Cys427Arg | |
| NM_080538.2:c.1249T>C (COLQ) | NP_536799.1:p.Cys417Arg | |
| NM_080539.3:c.1177T>C (COLQ) | NP_536800.2:p.Cys393Arg | |
| NM_005677.4:c.1279T>C (COLQ) MANE Select | NP_005668.2:p.Cys427Arg | |
| NM_080539.4:c.1177T>C (COLQ) | NP_536800.2:p.Cys393Arg |