Linked Data
ClinVar Variation Id:
458091
dbSNP Id:
rs79407194
ExAC:
17:78175608 C / T
gnomAD v2:
17-78175608-C-T
gnomAD v3:
17-80201809-C-T
gnomAD v4:
17-80201809-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80201809C>T , CM000679.2:g.80201809C>T | GRCh38 |
| NC_000017.10:g.78175608C>T , CM000679.1:g.78175608C>T | GRCh37 |
| NC_000017.9:g.75790203C>T | NCBI36 |
| NG_032778.1:g.36818C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000571427.2:c.1917C>T (CARD14) | ENSP00000516501.1:p.Ala639= | |
| ENST00000703566.1:c.1852-371C>T (CARD14) | ENSP00000515382.1:n.1852-371C>T | |
| ENST00000703567.1:c.1852-371C>T (CARD14) | ENSP00000515383.1:n.1852-371C>T | |
| ENST00000703568.1:c.*367C>T (CARD14) | ENSP00000515384.1:n.*367C>T | |
| ENST00000703569.1:n.2118C>T (CARD14) | ||
| ENST00000703570.1:n.833C>T (CARD14) | ||
| ENST00000703571.1:n.755C>T (CARD14) | ||
| ENST00000648509.2:c.1917C>T (CARD14) MANE Select | ENSP00000498071.1:p.Ala639= | |
| ENST00000649277.1:n.674C>T (CARD14) | ||
| ENST00000650867.1:c.1917C>T (CARD14) | ENSP00000498570.1:p.Ala639= | |
| ENST00000651068.1:c.*266C>T (CARD14) | ENSP00000498274.1:n.*266C>T | |
| ENST00000651388.1:c.*130C>T (CARD14) | ENSP00000498956.1:n.*130C>T | |
| ENST00000651672.1:c.1917C>T (CARD14) | ENSP00000499145.1:p.Ala639= | |
| ENST00000344227.6:c.1917C>T (CARD14) | ENSP00000344549.2:p.Ala639= | |
| ENST00000570421.5:c.1917C>T (CARD14) | ENSP00000461806.1:p.Ala639= | |
| ENST00000571450.1:c.1241-371C>T (CARD14) | ||
| ENST00000573882.5:c.1917C>T (CARD14) | ENSP00000458715.1:p.Ala639= | |
| ENST00000575500.5:c.*367C>T (CARD14) | ENSP00000460883.1:n.*367C>T | |
| NM_001257970.1:c.1917C>T (CARD14) | NP_001244899.1:p.Ala639= | |
| NM_024110.4:c.1917C>T (CARD14) | NP_077015.2:p.Ala639= | |
| NR_047566.1:n.2082C>T (CARD14) | ||
| XM_011525212.1:c.1917C>T (CARD14) | XP_011523514.1:p.Ala639= | |
| XM_011525213.1:c.1917C>T (CARD14) | XP_011523515.1:p.Ala639= | |
| XM_011525214.1:c.1917C>T (CARD14) | XP_011523516.1:p.Ala639= | |
| XM_011525215.1:c.1917C>T (CARD14) | XP_011523517.1:p.Ala639= | |
| XM_011525216.1:c.1917C>T (CARD14) | XP_011523518.1:p.Ala639= | |
| XM_011525217.1:c.1917C>T (CARD14) | XP_011523519.1:p.Ala639= | |
| XM_011525218.1:c.1917C>T (CARD14) | XP_011523520.1:p.Ala639= | |
| XM_011525219.1:c.1917C>T (CARD14) | XP_011523521.1:p.Ala639= | |
| XM_011525221.1:c.*68C>T (CARD14) | XP_011523523.1:n.*68C>T | |
| XM_011525222.1:c.*3-371C>T (CARD14) | XP_011523524.1:n.*3-371C>T | |
| XR_934547.1:n.1992-371C>T (CARD14) | ||
| XR_935031.1:n.2227G>A | ||
| NM_001366385.1:c.1917C>T (CARD14) MANE Select | NP_001353314.1:p.Ala639= | |
| XM_011525218.2:c.1917C>T (CARD14) | XP_011523520.1:p.Ala639= | |
| XM_024450934.1:c.1914C>T (CARD14) | XP_024306702.1:p.Ala638= | |
| XM_024450935.1:c.1917C>T (CARD14) | XP_024306703.1:p.Ala639= | |
| XM_024450936.1:c.1917C>T (CARD14) | XP_024306704.1:p.Ala639= | |
| XR_001752586.1:n.3819G>A (SGSH) | ||
| XR_001752587.1:n.3626G>A (SGSH) | ||
| XR_001752588.1:n.1992G>A (SGSH) | ||
| XR_001752589.1:n.2087G>A (SGSH) | ||
| XR_001752590.1:n.2102G>A (SGSH) | ||
| XR_001752591.1:n.2200G>A (SGSH) | ||
| XR_001752592.1:n.3729G>A (SGSH) | ||
| XR_002958057.1:n.4416G>A (SGSH) | ||
| XR_002958065.1:n.2057C>T (CARD14) | ||
| XR_002958066.1:n.1992-371C>T (CARD14) | ||
| NR_047566.2:n.2044C>T (CARD14) |