gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000913 (NFE)
Exomes Max Group AF
0.00000981 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36677932A>G , CM000668.2:g.36677932A>G | GRCh38 |
| NC_000006.11:g.36645709A>G , CM000668.1:g.36645709A>G | GRCh37 |
| NC_000006.10:g.36753687A>G | NCBI36 |
| NG_009364.1:g.4251A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448526.6:c.-7A>G (CDKN1A) | ENSP00000409259.3:n.-7A>G | |
| ENST00000459970.1:n.188A>G (CDKN1A) | ||
| ENST00000615513.4:c.-6+1408A>G (CDKN1A) | ENSP00000482768.1:n.-6+1408A>G | |
| NM_001220777.1:c.-6+1408A>G (CDKN1A) | NP_001207706.1:n.-6+1408A>G | |
| NM_001291549.1:c.96A>G (CDKN1A) | NP_001278478.1:p.Ser32= | |
| NM_078467.2:c.-7A>G (CDKN1A) | NP_510867.1:n.-7A>G | |
| NR_144384.1:n.628T>C (DINOL) | ||
| NM_001220777.2:c.-6+1408A>G (CDKN1A) | NP_001207706.1:n.-6+1408A>G | |
| NM_001291549.3:c.96A>G (CDKN1A) | NP_001278478.1:p.Ser32= | |
| NM_001374509.1:c.96A>G (CDKN1A) | NP_001361438.1:p.Ser32= | |
| NM_001374510.1:c.34+1362A>G (CDKN1A) | NP_001361439.1:n.34+1362A>G | |
| NM_078467.3:c.-7A>G (CDKN1A) | NP_510867.1:n.-7A>G |