gnomAD v4:
Joint Max Group AF
0.00001053 (NFE)
Exomes Max Group AF
0.00001131 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36677823A>T , CM000668.2:g.36677823A>T | GRCh38 |
| NC_000006.11:g.36645600A>T , CM000668.1:g.36645600A>T | GRCh37 |
| NC_000006.10:g.36753578A>T | NCBI36 |
| NG_009364.1:g.4142A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448526.6:c.-37-79A>T (CDKN1A) | ENSP00000409259.3:n.-37-79A>T | |
| ENST00000459970.1:n.79A>T (CDKN1A) | ||
| ENST00000615513.4:c.-6+1299A>T (CDKN1A) | ENSP00000482768.1:n.-6+1299A>T | |
| NM_001220777.1:c.-6+1299A>T (CDKN1A) | NP_001207706.1:n.-6+1299A>T | |
| NM_001291549.1:c.-14A>T (CDKN1A) | NP_001278478.1:n.-14A>T | |
| NM_078467.2:c.-37-79A>T (CDKN1A) | NP_510867.1:n.-37-79A>T | |
| NR_144384.1:n.737T>A (DINOL) | ||
| NM_001220777.2:c.-6+1299A>T (CDKN1A) | NP_001207706.1:n.-6+1299A>T | |
| NM_001291549.3:c.-14A>T (CDKN1A) | NP_001278478.1:n.-14A>T | |
| NM_001374509.1:c.-14A>T (CDKN1A) | NP_001361438.1:n.-14A>T | |
| NM_001374510.1:c.34+1253A>T (CDKN1A) | NP_001361439.1:n.34+1253A>T | |
| NM_078467.3:c.-37-79A>T (CDKN1A) | NP_510867.1:n.-37-79A>T |