Linked Data
ClinVar Variation Id:
294975
dbSNP Id:
rs35366573
ExAC:
1:207958446 C / T
gnomAD v2:
1-207958446-C-T
gnomAD v3:
1-207785101-C-T
gnomAD v4:
1-207785101-C-T
COSMIC:
COSM33621
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207785101C>T , CM000663.2:g.207785101C>T | GRCh38 |
| NC_000001.10:g.207958446C>T , CM000663.1:g.207958446C>T | GRCh37 |
| NC_000001.9:g.206025069C>T | NCBI36 |
| NG_009296.1:g.38045C>T , LRG_155:g.38045C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490278.2:n.2187C>T (CD46) | ||
| ENST00000496723.2:n.1764C>T (CD46) | ||
| ENST00000636114.2:n.2706C>T (CD46) | ||
| ENST00000695777.1:c.1013C>T (CD46) | ENSP00000512167.1:p.Ala338Val | |
| ENST00000695778.1:c.968C>T (CD46) | ENSP00000512168.1:p.Ala323Val | |
| ENST00000695779.1:n.1730C>T (CD46) | ||
| ENST00000695780.1:c.938-555C>T (CD46) | ENSP00000512169.1:n.938-555C>T | |
| ENST00000695781.1:c.*96C>T (CD46) | ENSP00000512170.1:n.*96C>T | |
| ENST00000695782.1:c.968C>T (CD46) | ENSP00000512171.1:p.Ala323Val | |
| ENST00000695783.1:n.4381C>T (CD46) | ||
| ENST00000695784.1:c.*139C>T (CD46) | ENSP00000512172.1:n.*139C>T | |
| ENST00000695786.1:n.935C>T (CD46) | ||
| ENST00000695787.1:n.2371C>T (CD46) | ||
| ENST00000695788.1:n.592C>T (CD46) | ||
| ENST00000695789.1:n.2264C>T (CD46) | ||
| ENST00000695790.1:n.2253C>T (CD46) | ||
| ENST00000367042.6:c.1013C>T (CD46) MANE Select | ENSP00000356009.1:p.Ala338Val | |
| ENST00000636114.1:n.767C>T (CD46) | ||
| ENST00000322875.8:c.1058C>T (CD46) | ENSP00000313875.4:p.Ala353Val | |
| ENST00000322918.9:c.968C>T (CD46) | ENSP00000314664.5:p.Ala323Val | |
| ENST00000354848.5:c.1013C>T (CD46) | ENSP00000346912.1:p.Ala338Val | |
| ENST00000357714.5:c.968C>T (CD46) | ENSP00000350346.1:p.Ala323Val | |
| ENST00000358170.6:c.1058C>T (CD46) | ENSP00000350893.2:p.Ala353Val | |
| ENST00000360212.6:c.926C>T (CD46) | ENSP00000353342.2:p.Ala309Val | |
| ENST00000367041.5:c.968C>T (CD46) | ENSP00000356008.1:p.Ala323Val | |
| ENST00000367042.5:c.1013C>T (CD46) | ENSP00000356009.1:p.Ala338Val | |
| ENST00000367047.5:c.869C>T (CD46) | ENSP00000356014.1:p.Ala290Val | |
| ENST00000462968.2:c.94C>T (CD46) | ||
| ENST00000469535.5:n.5762C>T (CD46) | ||
| ENST00000471987.1:n.123C>T (CD46) | ||
| ENST00000480003.5:c.971C>T (CD46) | ENSP00000418471.1:p.Ala324Val | |
| ENST00000488596.5:n.392C>T (CD46) | ||
| NM_002389.4:c.1058C>T , LRG_155t1:c.1058C>T (CD46) | NP_002380.3:p.Ala353Val | |
| NM_153826.3:c.1013C>T (CD46) | NP_722548.1:p.Ala338Val | |
| NM_172350.2:c.968C>T (CD46) | NP_758860.1:p.Ala323Val | |
| NM_172351.2:c.1013C>T (CD46) | NP_758861.1:p.Ala338Val | |
| NM_172352.2:c.968C>T (CD46) | NP_758862.1:p.Ala323Val | |
| NM_172353.2:c.968C>T (CD46) | NP_758863.1:p.Ala323Val | |
| NM_172359.2:c.1058C>T (CD46) | NP_758869.1:p.Ala353Val | |
| NM_172361.2:c.926C>T (CD46) | NP_758871.1:p.Ala309Val | |
| XM_011509563.1:c.1016C>T (CD46) | XP_011507865.1:p.Ala339Val | |
| XM_011509564.1:c.971C>T (CD46) | XP_011507866.1:p.Ala324Val | |
| XR_922496.1:n.7666+20904G>A (MIR29B2CHG) | ||
| XR_922497.1:n.6306-22113G>A (MIR29B2CHG) | ||
| NM_172355.2:c.971C>T (CD46) | NP_758865.1:p.Ala324Val | |
| NM_172356.2:c.971C>T (CD46) | NP_758866.1:p.Ala324Val | |
| NM_172357.2:c.926C>T (CD46) | NP_758867.1:p.Ala309Val | |
| NM_172358.2:c.1013C>T (CD46) | NP_758868.1:p.Ala338Val | |
| XM_011509563.2:c.1016C>T (CD46) | XP_011507865.1:p.Ala339Val | |
| XM_017001308.2:c.1016C>T (CD46) | XP_016856797.1:p.Ala339Val | |
| XR_001737177.2:n.2164C>T (CD46) | ||
| XR_002956621.1:n.2702C>T (CD46) | ||
| XR_002956622.1:n.2702C>T (CD46) | ||
| NM_153826.4:c.1013C>T (CD46) | NP_722548.1:p.Ala338Val | |
| NM_172350.3:c.968C>T (CD46) | NP_758860.1:p.Ala323Val | |
| NM_172351.3:c.1013C>T (CD46) MANE Select | NP_758861.1:p.Ala338Val | |
| NM_172352.3:c.968C>T (CD46) | NP_758862.1:p.Ala323Val | |
| NM_172353.3:c.968C>T (CD46) | NP_758863.1:p.Ala323Val | |
| NM_172355.3:c.971C>T (CD46) | NP_758865.1:p.Ala324Val | |
| NM_172356.3:c.971C>T (CD46) | NP_758866.1:p.Ala324Val | |
| NM_172357.3:c.926C>T (CD46) | NP_758867.1:p.Ala309Val | |
| NM_172358.3:c.1013C>T (CD46) | NP_758868.1:p.Ala338Val | |
| NM_172359.3:c.1058C>T (CD46) | NP_758869.1:p.Ala353Val | |
| NM_172361.3:c.926C>T (CD46) | NP_758871.1:p.Ala309Val |