Linked Data
dbSNP Id:
rs7366282
gnomAD v2:
1-214779427-A-C
gnomAD v3:
1-214606084-A-C
gnomAD v4:
1-214606084-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214606084A>C , CM000663.2:g.214606084A>C | GRCh38 |
| NC_000001.10:g.214779427A>C , CM000663.1:g.214779427A>C | GRCh37 |
| NC_000001.9:g.212846050A>C | NCBI36 |
| NG_046787.1:g.7906A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706764.1:n.137+2763A>C (CENPF) | ||
| ENST00000706765.1:c.-42+2763A>C (CENPF) | ENSP00000516538.1:n.-42+2763A>C | |
| ENST00000366955.8:c.-42+2763A>C (CENPF) MANE Select | ENSP00000355922.3:n.-42+2763A>C | |
| ENST00000366955.7:c.-42+2763A>C (CENPF) | ENSP00000355922.3:n.-42+2763A>C | |
| ENST00000464322.5:n.127+2763A>C (CENPF) | ||
| ENST00000495259.1:n.165+2436A>C (CENPF) | ||
| ENST00000503096.1:n.528-5T>G (ABHD17AP3) | ||
| NM_016343.3:c.-42+2763A>C (CENPF) | NP_057427.3:n.-42+2763A>C | |
| XM_011509082.1:c.-42+2763A>C (CENPF) | XP_011507384.1:n.-42+2763A>C | |
| XM_011509082.3:c.-42+2763A>C (CENPF) | XP_011507384.1:n.-42+2763A>C | |
| NM_016343.4:c.-42+2763A>C (CENPF) MANE Select | NP_057427.3:n.-42+2763A>C |