COSMIC:
COSN1197511 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12022113 (EAS)
Genomes Max Group AF
0.11337723 (EAS)
Exomes Max Group AF
0.12031603 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45834976G>A , CM000679.2:g.45834976G>A | GRCh38 |
| NC_000017.10:g.43912342G>A , CM000679.1:g.43912342G>A | GRCh37 |
| NC_000017.9:g.41268123G>A | NCBI36 |
| NG_009902.1:g.55715G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580876.6:c.*163G>A (CRHR1) | ENSP00000516345.1:n.*163G>A | |
| ENST00000580955.6:n.1675G>A (CRHR1) | ||
| ENST00000705340.1:n.1735G>A (CRHR1) | ||
| ENST00000705341.1:c.*1137G>A (CRHR1) | ENSP00000516114.1:n.*1137G>A | |
| ENST00000705342.1:n.1717G>A (CRHR1) | ||
| ENST00000705343.1:n.1700G>A (CRHR1) | ||
| ENST00000705344.1:n.1264G>A (CRHR1) | ||
| ENST00000705345.1:n.1642G>A (CRHR1) | ||
| ENST00000314537.10:c.*212G>A (CRHR1) MANE Select | ENSP00000326060.6:n.*212G>A | |
| ENST00000293493.11:c.*212G>A (CRHR1) | ENSP00000293493.8:n.*212G>A | |
| ENST00000314537.9:c.*212G>A (CRHR1) | ENSP00000326060.5:n.*212G>A | |
| ENST00000339069.9:c.*212G>A (CRHR1) | ENSP00000340522.6:n.*212G>A | |
| ENST00000347197.9:c.*937G>A (CRHR1) | ENSP00000239167.7:n.*937G>A | |
| ENST00000398285.7:c.1547G>A (CRHR1) | ENSP00000381333.3:n.1547G>A | |
| ENST00000535778.2:c.604G>A (CRHR1) | ||
| ENST00000619154.4:c.*789G>A (CRHR1) | ENSP00000484545.1:n.*789G>A | |
| ENST00000634540.1:c.*212G>A (LINC02210-CRHR1) | ENSP00000488912.1:n.*212G>A | |
| NM_001145146.1:c.*212G>A (CRHR1) | NP_001138618.1:n.*212G>A | |
| NM_001145147.1:c.*212G>A (CRHR1) | NP_001138619.1:n.*212G>A | |
| NM_001145148.1:c.*212G>A (CRHR1) | NP_001138620.1:n.*212G>A | |
| NM_001256299.2:c.*212G>A (LINC02210-CRHR1) | NP_001243228.1:n.*212G>A | |
| NM_001303016.1:c.*163G>A (LINC02210-CRHR1) | NP_001289945.1:n.*163G>A | |
| NM_001303018.1:c.*212G>A (CRHR1) | NP_001289947.1:n.*212G>A | |
| NM_001303020.1:c.*212G>A (CRHR1) | NP_001289949.1:n.*212G>A | |
| NM_004382.4:c.*212G>A (CRHR1) | NP_004373.2:n.*212G>A | |
| NM_001145146.2:c.*212G>A (CRHR1) | NP_001138618.1:n.*212G>A | |
| NM_001145147.2:c.*212G>A (CRHR1) | NP_001138619.1:n.*212G>A | |
| NM_001145148.2:c.*212G>A (CRHR1) | NP_001138620.1:n.*212G>A | |
| NM_001256299.3:c.*212G>A (LINC02210-CRHR1) | NP_001243228.1:n.*212G>A | |
| NM_001303018.2:c.*212G>A (CRHR1) | NP_001289947.1:n.*212G>A | |
| NM_004382.5:c.*212G>A (CRHR1) MANE Select | NP_004373.2:n.*212G>A | |
| NM_001303020.2:c.*212G>A (CRHR1) | NP_001289949.1:n.*212G>A |