Linked Data
dbSNP Id:
rs899470285
gnomAD v2:
17-43907796-T-C
gnomAD v3:
17-45830430-T-C
gnomAD v4:
17-45830430-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45830430T>C , CM000679.2:g.45830430T>C | GRCh38 |
| NC_000017.10:g.43907796T>C , CM000679.1:g.43907796T>C | GRCh37 |
| NC_000017.9:g.41263577T>C | NCBI36 |
| NG_009902.1:g.51169T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000580876.6:c.44T>C (CRHR1) | ENSP00000516345.1:p.Leu15Ser | |
| ENST00000580955.6:n.784T>C (CRHR1) | ||
| ENST00000705340.1:n.844T>C (CRHR1) | ||
| ENST00000705341.1:c.*246T>C (CRHR1) | ENSP00000516114.1:n.*246T>C | |
| ENST00000705342.1:n.669T>C (CRHR1) | ||
| ENST00000705343.1:n.809T>C (CRHR1) | ||
| ENST00000705344.1:n.373T>C (CRHR1) | ||
| ENST00000314537.10:c.569T>C (CRHR1) MANE Select | ENSP00000326060.6:p.Leu190Ser | |
| ENST00000293493.11:c.656T>C (CRHR1) | ENSP00000293493.8:p.Leu219Ser | |
| ENST00000314537.9:c.569T>C (CRHR1) | ENSP00000326060.5:p.Leu190Ser | |
| ENST00000339069.9:c.266T>C (CRHR1) | ENSP00000340522.6:p.Leu89Ser | |
| ENST00000347197.9:c.*46T>C (CRHR1) | ENSP00000239167.7:n.*46T>C | |
| ENST00000352855.9:c.449T>C (CRHR1) | ENSP00000344068.5:p.Leu150Ser | |
| ENST00000398285.7:c.656T>C (CRHR1) | ENSP00000381333.3:p.Leu219Ser | |
| ENST00000577353.5:c.569T>C (CRHR1) | ENSP00000462016.1:p.Leu190Ser | |
| ENST00000581479.1:n.31T>C (CRHR1) | ||
| ENST00000582766.5:n.627T>C (CRHR1) | ||
| ENST00000583888.1:c.339+216T>C (CRHR1) | ENSP00000462553.1:n.339+216T>C | |
| ENST00000619154.4:c.363T>C (CRHR1) | ENSP00000484545.1:p.Val121= | |
| ENST00000634540.1:c.44T>C (LINC02210-CRHR1) | ENSP00000488912.1:p.Leu15Ser | |
| NM_001145146.1:c.656T>C (CRHR1) | NP_001138618.1:p.Leu219Ser | |
| NM_001145147.1:c.449T>C (CRHR1) | NP_001138619.1:p.Leu150Ser | |
| NM_001145148.1:c.569T>C (CRHR1) | NP_001138620.1:p.Leu190Ser | |
| NM_001256299.2:c.44T>C (LINC02210-CRHR1) | NP_001243228.1:p.Leu15Ser | |
| NM_001303016.1:c.266T>C (LINC02210-CRHR1) | NP_001289945.1:p.Leu89Ser | |
| NM_001303018.1:c.44T>C (CRHR1) | NP_001289947.1:p.Leu15Ser | |
| NM_001303020.1:c.266T>C (CRHR1) | NP_001289949.1:p.Leu89Ser | |
| NM_004382.4:c.569T>C (CRHR1) | NP_004373.2:p.Leu190Ser | |
| NM_001145146.2:c.656T>C (CRHR1) | NP_001138618.1:p.Leu219Ser | |
| NM_001145147.2:c.449T>C (CRHR1) | NP_001138619.1:p.Leu150Ser | |
| NM_001145148.2:c.569T>C (CRHR1) | NP_001138620.1:p.Leu190Ser | |
| NM_001256299.3:c.44T>C (LINC02210-CRHR1) | NP_001243228.1:p.Leu15Ser | |
| NM_001303018.2:c.44T>C (CRHR1) | NP_001289947.1:p.Leu15Ser | |
| NM_004382.5:c.569T>C (CRHR1) MANE Select | NP_004373.2:p.Leu190Ser | |
| NM_001303020.2:c.266T>C (CRHR1) | NP_001289949.1:p.Leu89Ser |