Linked Data
ClinVar Variation Id:
1342477
ClinVar RCV Id:
RCV001839228
dbSNP Id:
rs2133439037
gnomAD v4:
11-694944-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.694944C>T , CM000673.2:g.694944C>T | GRCh38 |
| NC_000011.9:g.694944C>T , CM000673.1:g.694944C>T | GRCh37 |
| NC_000011.8:g.684944C>T | NCBI36 |
| NG_034156.1:g.5811G>A | |
| NG_034156.2:g.17140G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683307.1:c.-437-3346G>A (DEAF1) | ENSP00000507198.1:n.-437-3346G>A | |
| ENST00000685854.1:c.-101G>A (DEAF1) | ENSP00000508801.1:n.-101G>A | |
| ENST00000686001.1:c.-101G>A (DEAF1) | ENSP00000508459.1:n.-101G>A | |
| ENST00000687329.1:c.-101G>A (DEAF1) | ENSP00000510598.1:n.-101G>A | |
| ENST00000689835.1:c.-101G>A (DEAF1) | ENSP00000510621.1:n.-101G>A | |
| ENST00000690068.1:c.-101G>A (DEAF1) | ENSP00000509089.1:n.-101G>A | |
| ENST00000692634.1:c.-101G>A (DEAF1) | ENSP00000508859.1:n.-101G>A | |
| ENST00000693164.1:n.98G>A (DEAF1) | ||
| ENST00000382409.4:c.104G>A (DEAF1) MANE Select | ENSP00000371846.3:p.Gly35Asp | |
| ENST00000382409.3:c.104G>A (DEAF1) | ENSP00000371846.3:p.Gly35Asp | |
| ENST00000524763.5:c.-227+469C>T (EPS8L2) | ENSP00000435128.1:n.-227+469C>T | |
| ENST00000525626.5:n.145-3346G>A (DEAF1) | ||
| NM_001293634.1:c.104G>A (DEAF1) | NP_001280563.1:p.Gly35Asp | |
| NM_021008.3:c.104G>A (DEAF1) | NP_066288.2:p.Gly35Asp | |
| XM_011519842.1:c.104G>A (DEAF1) | XP_011518144.1:p.Gly35Asp | |
| XM_011519843.1:c.104G>A (DEAF1) | XP_011518145.1:p.Gly35Asp | |
| XR_428838.2:n.110G>A (DEAF1) | ||
| XR_930843.1:n.110G>A (DEAF1) | ||
| XM_011519842.3:c.104G>A (DEAF1) | XP_011518144.1:p.Gly35Asp | |
| XM_024448325.1:c.104G>A (DEAF1) | XP_024304093.1:p.Gly35Asp | |
| XM_024448326.1:c.104G>A (DEAF1) | XP_024304094.1:p.Gly35Asp | |
| XM_024448327.1:c.104G>A (DEAF1) | XP_024304095.1:p.Gly35Asp | |
| NM_001367390.1:c.-437-3346G>A (DEAF1) | NP_001354319.1:n.-437-3346G>A | |
| NM_021008.4:c.104G>A (DEAF1) MANE Select | NP_066288.2:p.Gly35Asp |