COSMIC:
COSM430206 (not active)
Revel Score:
ENST00000240618 (MANE Select)
0.010
ENST00000540818
0.010
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87503264 (SAS)
Genomes Max Group AF
0.86160989 (SAS)
Exomes Max Group AF
0.8746876 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10379727T>C , CM000674.2:g.10379727T>C | GRCh38 |
| NC_000012.11:g.10532326T>C , CM000674.1:g.10532326T>C | GRCh37 |
| NC_000012.10:g.10423593T>C | NCBI36 |
| NG_027762.1:g.15315A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240618.11:c.214A>G (KLRK1) MANE Select | ENSP00000240618.6:p.Thr72Ala | |
| ENST00000240618.10:c.214A>G (KLRK1) | ENSP00000240618.6:p.Thr72Ala | |
| ENST00000396451.4:c.214A>G (KLRK1) | ENSP00000379726.4:p.Thr72Ala | |
| ENST00000539300.5:c.862A>G (KLRC4-KLRK1) | ||
| ENST00000539370.5:n.747A>G (KLRC4-KLRK1) | ||
| ENST00000540267.5:n.435A>G (KLRK1) | ||
| ENST00000540818.5:c.214A>G (KLRK1) | ENSP00000446003.1:p.Thr72Ala | |
| ENST00000543572.6:c.552A>G (KLRC4-KLRK1) | ENSP00000456286.1:n.552A>G | |
| ENST00000543812.5:c.*411A>G (KLRC4-KLRK1) | ENSP00000457500.1:n.*411A>G | |
| ENST00000544449.5:n.362A>G (KLRK1) | ||
| ENST00000585507.5:c.*597A>G (KLRC4-KLRK1) | ENSP00000465434.1:n.*597A>G | |
| ENST00000585711.5:c.504A>G (KLRC4-KLRK1) | ||
| ENST00000586581.5:c.747A>G (KLRC4-KLRK1) | ||
| ENST00000588263.5:c.*296A>G (KLRC4-KLRK1) | ENSP00000468074.1:n.*296A>G | |
| ENST00000588447.5:c.*539A>G (KLRC4-KLRK1) | ENSP00000465254.1:n.*539A>G | |
| ENST00000590131.5:c.*296A>G (KLRC4-KLRK1) | ENSP00000467152.1:n.*296A>G | |
| ENST00000590323.5:c.*482A>G (KLRC4-KLRK1) | ENSP00000467880.1:n.*482A>G | |
| ENST00000591546.5:c.*83A>G (KLRC4-KLRK1) | ENSP00000468432.1:n.*83A>G | |
| NM_001199805.1:c.214A>G (KLRC4-KLRK1) | NP_001186734.1:p.Thr72Ala | |
| NM_007360.3:c.214A>G (KLRK1) | NP_031386.2:p.Thr72Ala | |
| NR_120430.1:n.393T>C (KLRK1-AS1) | ||
| NM_007360.4:c.214A>G (KLRK1) MANE Select | NP_031386.2:p.Thr72Ala |