Linked Data
ClinVar Variation Id:
458097
dbSNP Id:
rs2289541
ExAC:
17:78179408 G / A
gnomAD v2:
17-78179408-G-A
gnomAD v3:
17-80205609-G-A
gnomAD v4:
17-80205609-G-A
COSMIC:
COSM1387036
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80205609G>A , CM000679.2:g.80205609G>A | GRCh38 |
| NC_000017.10:g.78179408G>A , CM000679.1:g.78179408G>A | GRCh37 |
| NC_000017.9:g.75794003G>A | NCBI36 |
| NG_032778.1:g.40618G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000571427.2:c.2648G>A (CARD14) | ENSP00000516501.1:p.Arg883His | |
| ENST00000703566.1:c.*484G>A (CARD14) | ENSP00000515382.1:n.*484G>A | |
| ENST00000703567.1:c.*484G>A (CARD14) | ENSP00000515383.1:n.*484G>A | |
| ENST00000703568.1:c.*1108G>A (CARD14) | ENSP00000515384.1:n.*1108G>A | |
| ENST00000703569.1:n.2849G>A (CARD14) | ||
| ENST00000703570.1:n.1564G>A (CARD14) | ||
| ENST00000703571.1:n.1496G>A (CARD14) | ||
| ENST00000703572.1:n.532G>A (CARD14) | ||
| ENST00000703573.1:n.866G>A (CARD14) | ||
| ENST00000648509.2:c.2648G>A (CARD14) MANE Select | ENSP00000498071.1:p.Arg883His | |
| ENST00000649277.1:n.1405G>A (CARD14) | ||
| ENST00000650867.1:c.*93G>A (CARD14) | ENSP00000498570.1:n.*93G>A | |
| ENST00000651068.1:c.*1007G>A (CARD14) | ENSP00000498274.1:n.*1007G>A | |
| ENST00000651672.1:c.2675G>A (CARD14) | ENSP00000499145.1:p.Arg892His | |
| ENST00000344227.6:c.2648G>A (CARD14) | ENSP00000344549.2:p.Arg883His | |
| ENST00000573882.5:c.2648G>A (CARD14) | ENSP00000458715.1:p.Arg883His | |
| ENST00000575500.5:c.*1108G>A (CARD14) | ENSP00000460883.1:n.*1108G>A | |
| NM_024110.4:c.2648G>A (CARD14) | NP_077015.2:p.Arg883His | |
| NR_047566.1:n.2823G>A (CARD14) | ||
| XM_011525212.1:c.2648G>A (CARD14) | XP_011523514.1:p.Arg883His | |
| XM_011525213.1:c.2648G>A (CARD14) | XP_011523515.1:p.Arg883His | |
| XM_011525214.1:c.2648G>A (CARD14) | XP_011523516.1:p.Arg883His | |
| XM_011525215.1:c.2648G>A (CARD14) | XP_011523517.1:p.Arg883His | |
| XM_011525216.1:c.2648G>A (CARD14) | XP_011523518.1:p.Arg883His | |
| XM_011525217.1:c.2648G>A (CARD14) | XP_011523519.1:p.Arg883His | |
| XM_011525218.1:c.2648G>A (CARD14) | XP_011523520.1:p.Arg883His | |
| XM_011525219.1:c.*93G>A (CARD14) | XP_011523521.1:n.*93G>A | |
| NM_001366385.1:c.2648G>A (CARD14) MANE Select | NP_001353314.1:p.Arg883His | |
| XM_011525218.2:c.2648G>A (CARD14) | XP_011523520.1:p.Arg883His | |
| XM_024450934.1:c.2645G>A (CARD14) | XP_024306702.1:p.Arg882His | |
| XM_024450935.1:c.2648G>A (CARD14) | XP_024306703.1:p.Arg883His | |
| XR_001752586.1:n.1487C>T (SGSH) | ||
| XR_001752587.1:n.1294C>T (SGSH) | ||
| XR_001752588.1:n.1487C>T (SGSH) | ||
| XR_001752589.1:n.1487C>T (SGSH) | ||
| XR_001752590.1:n.1487C>T (SGSH) | ||
| XR_001752591.1:n.1487C>T (SGSH) | ||
| XR_001752592.1:n.1487C>T (SGSH) | ||
| XR_002958057.1:n.2084C>T (SGSH) | ||
| XR_002958065.1:n.2798G>A (CARD14) | ||
| NR_047566.2:n.2785G>A (CARD14) |