Linked Data
ClinVar Variation Id:
402487
dbSNP Id:
rs11652075
ExAC:
17:78178893 C / T
gnomAD v2:
17-78178893-C-T
gnomAD v3:
17-80205094-C-T
gnomAD v4:
17-80205094-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80205094C>T , CM000679.2:g.80205094C>T | GRCh38 |
| NC_000017.10:g.78178893C>T , CM000679.1:g.78178893C>T | GRCh37 |
| NC_000017.9:g.75793488C>T | NCBI36 |
| NG_032778.1:g.40103C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000571427.2:c.2458C>T (CARD14) | ENSP00000516501.1:p.Arg820Trp | |
| ENST00000703566.1:c.*294C>T (CARD14) | ENSP00000515382.1:n.*294C>T | |
| ENST00000703567.1:c.*294C>T (CARD14) | ENSP00000515383.1:n.*294C>T | |
| ENST00000703568.1:c.*918C>T (CARD14) | ENSP00000515384.1:n.*918C>T | |
| ENST00000703569.1:n.2659C>T (CARD14) | ||
| ENST00000703570.1:n.1374C>T (CARD14) | ||
| ENST00000703571.1:n.1306C>T (CARD14) | ||
| ENST00000703572.1:n.342C>T (CARD14) | ||
| ENST00000703573.1:n.676C>T (CARD14) | ||
| ENST00000648509.2:c.2458C>T (CARD14) MANE Select | ENSP00000498071.1:p.Arg820Trp | |
| ENST00000649277.1:n.1215C>T (CARD14) | ||
| ENST00000650867.1:c.2468C>T (CARD14) | ENSP00000498570.1:p.Ala823Val | |
| ENST00000651068.1:c.*817C>T (CARD14) | ENSP00000498274.1:n.*817C>T | |
| ENST00000651672.1:c.2485C>T (CARD14) | ENSP00000499145.1:p.Arg829Trp | |
| ENST00000344227.6:c.2458C>T (CARD14) | ENSP00000344549.2:p.Arg820Trp | |
| ENST00000573882.5:c.2458C>T (CARD14) | ENSP00000458715.1:p.Arg820Trp | |
| ENST00000575500.5:c.*918C>T (CARD14) | ENSP00000460883.1:n.*918C>T | |
| NM_024110.4:c.2458C>T (CARD14) | NP_077015.2:p.Arg820Trp | |
| NR_047566.1:n.2633C>T (CARD14) | ||
| XM_011525212.1:c.2458C>T (CARD14) | XP_011523514.1:p.Arg820Trp | |
| XM_011525213.1:c.2458C>T (CARD14) | XP_011523515.1:p.Arg820Trp | |
| XM_011525214.1:c.2458C>T (CARD14) | XP_011523516.1:p.Arg820Trp | |
| XM_011525215.1:c.2458C>T (CARD14) | XP_011523517.1:p.Arg820Trp | |
| XM_011525216.1:c.2458C>T (CARD14) | XP_011523518.1:p.Arg820Trp | |
| XM_011525217.1:c.2458C>T (CARD14) | XP_011523519.1:p.Arg820Trp | |
| XM_011525218.1:c.2458C>T (CARD14) | XP_011523520.1:p.Arg820Trp | |
| XM_011525219.1:c.2468C>T (CARD14) | XP_011523521.1:p.Ala823Val | |
| NM_001366385.1:c.2458C>T (CARD14) MANE Select | NP_001353314.1:p.Arg820Trp | |
| XM_011525218.2:c.2458C>T (CARD14) | XP_011523520.1:p.Arg820Trp | |
| XM_024450934.1:c.2455C>T (CARD14) | XP_024306702.1:p.Arg819Trp | |
| XM_024450935.1:c.2458C>T (CARD14) | XP_024306703.1:p.Arg820Trp | |
| XR_001752586.1:n.1763+239G>A (SGSH) | ||
| XR_001752587.1:n.1570+239G>A (SGSH) | ||
| XR_001752588.1:n.1763+239G>A (SGSH) | ||
| XR_001752589.1:n.1763+239G>A (SGSH) | ||
| XR_001752590.1:n.1763+239G>A (SGSH) | ||
| XR_001752591.1:n.1763+239G>A (SGSH) | ||
| XR_001752592.1:n.1673+239G>A (SGSH) | ||
| XR_002958057.1:n.2360+239G>A (SGSH) | ||
| XR_002958065.1:n.2608C>T (CARD14) | ||
| NR_047566.2:n.2595C>T (CARD14) |