Linked Data
ClinVar Variation Id:
540575
ClinVar RCV Id:
RCV000650645
dbSNP Id:
rs764111643
ExAC:
9:138594142 T / C
gnomAD v2:
9-138594142-T-C
gnomAD v4:
9-135702296-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135702296T>C , CM000671.2:g.135702296T>C | GRCh38 |
| NC_000009.11:g.138594142T>C , CM000671.1:g.138594142T>C | GRCh37 |
| NC_000009.10:g.137733963T>C | NCBI36 |
| NG_033070.1:g.5112T>C | |
| NG_033784.1:g.2233A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.38T>C (KCNT1) MANE Select | ENSP00000360822.2:p.Val13Ala | |
| ENST00000674066.1:n.885-1170A>G (SOHLH1) | ||
| ENST00000371757.6:c.38T>C (KCNT1) | ENSP00000360822.2:p.Val13Ala | |
| ENST00000460750.5:c.38T>C (KCNT1) | ENSP00000418777.1:p.Val13Ala | |
| ENST00000487664.5:c.38T>C (KCNT1) | ENSP00000417851.2:p.Val13Ala | |
| ENST00000628528.2:c.38T>C (KCNT1) | ENSP00000486374.1:p.Val13Ala | |
| NM_001272003.1:c.38T>C (KCNT1) | NP_001258932.1:p.Val13Ala | |
| NM_020822.2:c.38T>C (KCNT1) | NP_065873.2:p.Val13Ala | |
| XR_930435.1:n.1553A>G | ||
| XR_930436.1:n.1389A>G | ||
| NM_020822.3:c.38T>C (KCNT1) MANE Select | NP_065873.2:p.Val13Ala | |
| NM_001272003.2:c.38T>C (KCNT1) | NP_001258932.1:p.Val13Ala |