Linked Data
ClinVar Variation Id:
355464
ClinVar RCV Id:
RCV001683412
dbSNP Id:
rs17053542
gnomAD v2:
6-133852127-A-T
gnomAD v3:
6-133530989-A-T
gnomAD v4:
6-133530989-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.133530989A>T , CM000668.2:g.133530989A>T | GRCh38 |
| NC_000006.11:g.133852127A>T , CM000668.1:g.133852127A>T | GRCh37 |
| NC_000006.10:g.133893820A>T | NCBI36 |
| NG_011596.1:g.294633A>T | |
| NG_011596.2:g.294633A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525849.7:c.*2184A>T (EYA4) | ENSP00000433219.1:n.*2184A>T | |
| ENST00000706301.1:c.*2184A>T (EYA4) | ENSP00000516341.1:n.*2184A>T | |
| ENST00000355167.8:c.*2184A>T (EYA4) | ENSP00000347294.4:n.*2184A>T | |
| ENST00000355286.12:c.*2184A>T (EYA4) MANE Select | ENSP00000347434.7:n.*2184A>T | |
| ENST00000355167.7:c.*2184A>T (EYA4) | ENSP00000347294.3:n.*2184A>T | |
| ENST00000367895.9:c.*2184A>T (EYA4) | ENSP00000356870.5:n.*2184A>T | |
| ENST00000430974.6:c.1696-220A>T (EYA4) | ENSP00000388670.2:n.1696-220A>T | |
| NM_001301012.1:c.*2184A>T (EYA4) | NP_001287941.1:n.*2184A>T | |
| NM_001301013.1:c.*2184A>T (EYA4) | NP_001287942.1:n.*2184A>T | |
| NM_004100.4:c.*2184A>T (EYA4) | NP_004091.3:n.*2184A>T | |
| NM_172103.3:c.*2184A>T (EYA4) | NP_742101.2:n.*2184A>T | |
| NM_172105.3:c.*2184A>T (EYA4) | NP_742103.1:n.*2184A>T | |
| NR_109982.1:n.2285+4791T>A (TARID) | ||
| XM_005266851.3:c.*2184A>T (EYA4) | XP_005266908.1:n.*2184A>T | |
| XM_005266853.3:c.*2184A>T (EYA4) | XP_005266910.1:n.*2184A>T | |
| XM_011535540.1:c.*2122A>T (EYA4) | XP_011533842.1:n.*2122A>T | |
| XM_011535541.1:c.*2122A>T (EYA4) | XP_011533843.1:n.*2122A>T | |
| XM_011535542.1:c.*2122A>T (EYA4) | XP_011533844.1:n.*2122A>T | |
| XM_005266851.5:c.*2184A>T (EYA4) | XP_005266908.1:n.*2184A>T | |
| XM_005266853.5:c.*2184A>T (EYA4) | XP_005266910.1:n.*2184A>T | |
| XM_017010368.2:c.*5627A>T (EYA4) | XP_016865857.1:n.*5627A>T | |
| XM_017010369.2:c.*5627A>T (EYA4) | XP_016865858.1:n.*5627A>T | |
| XM_017010370.2:c.*5627A>T (EYA4) | XP_016865859.1:n.*5627A>T | |
| XM_017010371.2:c.*5627A>T (EYA4) | XP_016865860.1:n.*5627A>T | |
| XM_017010372.2:c.*5627A>T (EYA4) | XP_016865861.1:n.*5627A>T | |
| XM_017010373.2:c.*5627A>T (EYA4) | XP_016865862.1:n.*5627A>T | |
| XM_017010374.2:c.*2184A>T (EYA4) | XP_016865863.1:n.*2184A>T | |
| XM_017010375.1:c.*2184A>T (EYA4) | XP_016865864.1:n.*2184A>T | |
| XR_001743220.2:n.7807A>T (EYA4) | ||
| NM_004100.5:c.*2184A>T (EYA4) MANE Select | NP_004091.3:n.*2184A>T | |
| NM_001370458.1:c.*2184A>T (EYA4) | NP_001357387.1:n.*2184A>T | |
| NM_001370459.1:c.*2184A>T (EYA4) | NP_001357388.1:n.*2184A>T | |
| NM_001301012.2:c.*2184A>T (EYA4) | NP_001287941.1:n.*2184A>T | |
| NM_001301013.2:c.*2184A>T (EYA4) | NP_001287942.1:n.*2184A>T | |
| NM_172103.4:c.*2184A>T (EYA4) | NP_742101.2:n.*2184A>T | |
| NM_172105.4:c.*2184A>T (EYA4) | NP_742103.1:n.*2184A>T |