Linked Data
ClinVar Variation Id:
540597
ClinVar RCV Id:
RCV000650683
dbSNP Id:
rs1406826181
gnomAD v3:
9-135702343-T-C
gnomAD v4:
9-135702343-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135702343T>C , CM000671.2:g.135702343T>C | GRCh38 |
| NC_000009.11:g.138594189T>C , CM000671.1:g.138594189T>C | GRCh37 |
| NC_000009.10:g.137734010T>C | NCBI36 |
| NG_033070.1:g.5159T>C | |
| NG_033784.1:g.2186A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.85T>C (KCNT1) MANE Select | ENSP00000360822.2:p.Phe29Leu | |
| ENST00000636274.1:n.13T>C (KCNT1) | ||
| ENST00000674066.1:n.884+1137A>G (SOHLH1) | ||
| ENST00000371757.6:c.85T>C (KCNT1) | ENSP00000360822.2:p.Phe29Leu | |
| ENST00000460750.5:c.85T>C (KCNT1) | ENSP00000418777.1:p.Phe29Leu | |
| ENST00000487664.5:c.85T>C (KCNT1) | ENSP00000417851.2:p.Phe29Leu | |
| ENST00000628528.2:c.85T>C (KCNT1) | ENSP00000486374.1:p.Phe29Leu | |
| NM_001272003.1:c.85T>C (KCNT1) | NP_001258932.1:p.Phe29Leu | |
| NM_020822.2:c.85T>C (KCNT1) | NP_065873.2:p.Phe29Leu | |
| XR_930435.1:n.1506A>G | ||
| XR_930436.1:n.1342A>G | ||
| NM_020822.3:c.85T>C (KCNT1) MANE Select | NP_065873.2:p.Phe29Leu | |
| NM_001272003.2:c.85T>C (KCNT1) | NP_001258932.1:p.Phe29Leu |