Linked Data
dbSNP Id:
rs373012421
ExAC:
17:43907803 A / T
gnomAD v2:
17-43907803-A-T
gnomAD v3:
17-45830437-A-T
gnomAD v4:
17-45830437-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45830437A>T , CM000679.2:g.45830437A>T | GRCh38 |
| NC_000017.10:g.43907803A>T , CM000679.1:g.43907803A>T | GRCh37 |
| NC_000017.9:g.41263584A>T | NCBI36 |
| NG_009902.1:g.51176A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000580876.6:c.51A>T (CRHR1) | ENSP00000516345.1:p.Thr17= | |
| ENST00000580955.6:n.791A>T (CRHR1) | ||
| ENST00000705340.1:n.851A>T (CRHR1) | ||
| ENST00000705341.1:c.*253A>T (CRHR1) | ENSP00000516114.1:n.*253A>T | |
| ENST00000705342.1:n.676A>T (CRHR1) | ||
| ENST00000705343.1:n.816A>T (CRHR1) | ||
| ENST00000705344.1:n.380A>T (CRHR1) | ||
| ENST00000314537.10:c.576A>T (CRHR1) MANE Select | ENSP00000326060.6:p.Thr192= | |
| ENST00000293493.11:c.663A>T (CRHR1) | ENSP00000293493.8:p.Thr221= | |
| ENST00000314537.9:c.576A>T (CRHR1) | ENSP00000326060.5:p.Thr192= | |
| ENST00000339069.9:c.273A>T (CRHR1) | ENSP00000340522.6:p.Thr91= | |
| ENST00000347197.9:c.*53A>T (CRHR1) | ENSP00000239167.7:n.*53A>T | |
| ENST00000352855.9:c.456A>T (CRHR1) | ENSP00000344068.5:p.Thr152= | |
| ENST00000398285.7:c.663A>T (CRHR1) | ENSP00000381333.3:p.Thr221= | |
| ENST00000577353.5:c.576A>T (CRHR1) | ENSP00000462016.1:p.Thr192= | |
| ENST00000581479.1:n.38A>T (CRHR1) | ||
| ENST00000582766.5:n.634A>T (CRHR1) | ||
| ENST00000583888.1:c.339+223A>T (CRHR1) | ENSP00000462553.1:n.339+223A>T | |
| ENST00000619154.4:c.370A>T (CRHR1) | ENSP00000484545.1:p.Ser124Cys | |
| ENST00000634540.1:c.51A>T (LINC02210-CRHR1) | ENSP00000488912.1:p.Thr17= | |
| NM_001145146.1:c.663A>T (CRHR1) | NP_001138618.1:p.Thr221= | |
| NM_001145147.1:c.456A>T (CRHR1) | NP_001138619.1:p.Thr152= | |
| NM_001145148.1:c.576A>T (CRHR1) | NP_001138620.1:p.Thr192= | |
| NM_001256299.2:c.51A>T (LINC02210-CRHR1) | NP_001243228.1:p.Thr17= | |
| NM_001303016.1:c.273A>T (LINC02210-CRHR1) | NP_001289945.1:p.Thr91= | |
| NM_001303018.1:c.51A>T (CRHR1) | NP_001289947.1:p.Thr17= | |
| NM_001303020.1:c.273A>T (CRHR1) | NP_001289949.1:p.Thr91= | |
| NM_004382.4:c.576A>T (CRHR1) | NP_004373.2:p.Thr192= | |
| NM_001145146.2:c.663A>T (CRHR1) | NP_001138618.1:p.Thr221= | |
| NM_001145147.2:c.456A>T (CRHR1) | NP_001138619.1:p.Thr152= | |
| NM_001145148.2:c.576A>T (CRHR1) | NP_001138620.1:p.Thr192= | |
| NM_001256299.3:c.51A>T (LINC02210-CRHR1) | NP_001243228.1:p.Thr17= | |
| NM_001303018.2:c.51A>T (CRHR1) | NP_001289947.1:p.Thr17= | |
| NM_004382.5:c.576A>T (CRHR1) MANE Select | NP_004373.2:p.Thr192= | |
| NM_001303020.2:c.273A>T (CRHR1) | NP_001289949.1:p.Thr91= |