Linked Data
ClinVar Variation Id:
1273274
ClinVar RCV Id:
RCV001679097
dbSNP Id:
rs2617170
ExAC:
12:10560957 T / C
gnomAD v2:
12-10560957-T-C
gnomAD v3:
12-10408358-T-C
gnomAD v4:
12-10408358-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10408358T>C , CM000674.2:g.10408358T>C | GRCh38 |
| NC_000012.11:g.10560957T>C , CM000674.1:g.10560957T>C | GRCh37 |
| NC_000012.10:g.10452224T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309384.3:c.311A>G (KLRC4) MANE Select | ENSP00000310216.1:p.Asn104Ser | |
| ENST00000309384.2:c.311A>G (KLRC4) | ENSP00000310216.1:p.Asn104Ser | |
| ENST00000539300.5:c.285A>G (KLRC4-KLRK1) | ||
| ENST00000539370.5:n.285A>G (KLRC4-KLRK1) | ||
| ENST00000543812.5:c.62A>G (KLRC4-KLRK1) | ENSP00000457500.1:p.Asn21Ser | |
| ENST00000585507.5:c.62A>G (KLRC4-KLRK1) | ENSP00000465434.1:p.Asn21Ser | |
| ENST00000586581.5:c.285A>G (KLRC4-KLRK1) | ||
| ENST00000588263.5:c.62A>G (KLRC4-KLRK1) | ENSP00000468074.1:p.Asn21Ser | |
| ENST00000588447.5:c.62A>G (KLRC4-KLRK1) | ENSP00000465254.1:p.Asn21Ser | |
| ENST00000590131.5:c.62A>G (KLRC4-KLRK1) | ENSP00000467152.1:p.Asn21Ser | |
| ENST00000590323.5:c.62A>G (KLRC4-KLRK1) | ENSP00000467880.1:p.Asn21Ser | |
| ENST00000591546.5:c.62A>G (KLRC4-KLRK1) | ENSP00000468432.1:p.Asn21Ser | |
| ENST00000591937.1:c.62A>G (KLRC4-KLRK1) | ENSP00000466326.1:p.Asn21Ser | |
| NM_001199805.1:c.-364A>G (KLRC4-KLRK1) | NP_001186734.1:n.-364A>G | |
| NM_013431.2:c.311A>G (KLRC4) MANE Select | NP_038459.1:p.Asn104Ser |