gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47765811 (AMR)
Genomes Max Group AF
0.47765811 (AMR)
Exomes Max Group AF
0.227719 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207794374T>C , CM000663.2:g.207794374T>C | GRCh38 |
| NC_000001.10:g.207967719T>C , CM000663.1:g.207967719T>C | GRCh37 |
| NC_000001.9:g.206034342T>C | NCBI36 |
| NG_009296.1:g.47318T>C , LRG_155:g.47318T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490278.2:n.3168T>C (CD46) | ||
| ENST00000496723.2:n.2782T>C (CD46) | ||
| ENST00000636114.2:n.3631T>C (CD46) | ||
| ENST00000695777.1:c.*779T>C (CD46) | ENSP00000512167.1:n.*779T>C | |
| ENST00000695778.1:c.*938T>C (CD46) | ENSP00000512168.1:n.*938T>C | |
| ENST00000695779.1:n.2748T>C (CD46) | ||
| ENST00000695780.1:c.*779T>C (CD46) | ENSP00000512169.1:n.*779T>C | |
| ENST00000695781.1:c.*1021T>C (CD46) | ENSP00000512170.1:n.*1021T>C | |
| ENST00000695782.1:c.*779T>C (CD46) | ENSP00000512171.1:n.*779T>C | |
| ENST00000695783.1:n.5399T>C (CD46) | ||
| ENST00000695784.1:c.*1064T>C (CD46) | ENSP00000512172.1:n.*1064T>C | |
| ENST00000695786.1:n.1860T>C (CD46) | ||
| ENST00000695788.1:n.1517T>C (CD46) | ||
| ENST00000695790.1:n.3690T>C (CD46) | ||
| ENST00000367042.6:c.*897T>C (CD46) MANE Select | ENSP00000356009.1:n.*897T>C | |
| ENST00000636114.1:n.1692T>C (CD46) | ||
| ENST00000322875.8:c.*783T>C (CD46) | ENSP00000313875.4:n.*783T>C | |
| ENST00000322918.9:c.*779T>C (CD46) | ENSP00000314664.5:n.*779T>C | |
| ENST00000354848.5:c.*783T>C (CD46) | ENSP00000346912.1:n.*783T>C | |
| ENST00000357714.5:c.*783T>C (CD46) | ENSP00000350346.1:n.*783T>C | |
| ENST00000358170.6:c.*897T>C (CD46) | ENSP00000350893.2:n.*897T>C | |
| ENST00000360212.6:c.*783T>C (CD46) | ENSP00000353342.2:n.*783T>C | |
| ENST00000367041.5:c.*897T>C (CD46) | ENSP00000356008.1:n.*897T>C | |
| ENST00000367042.5:c.*897T>C (CD46) | ENSP00000356009.1:n.*897T>C | |
| ENST00000367047.5:c.*783T>C (CD46) | ENSP00000356014.1:n.*783T>C | |
| ENST00000462968.2:c.254-631T>C (CD46) | ||
| ENST00000469535.5:n.6687T>C (CD46) | ||
| NM_002389.4:c.*897T>C , LRG_155t1:c.*897T>C (CD46) | NP_002380.3:n.*897T>C | |
| NM_153826.3:c.*783T>C (CD46) | NP_722548.1:n.*783T>C | |
| NM_172350.2:c.*779T>C (CD46) | NP_758860.1:n.*779T>C | |
| NM_172351.2:c.*897T>C (CD46) | NP_758861.1:n.*897T>C | |
| NM_172352.2:c.*897T>C (CD46) | NP_758862.1:n.*897T>C | |
| NM_172353.2:c.*783T>C (CD46) | NP_758863.1:n.*783T>C | |
| NM_172359.2:c.*783T>C (CD46) | NP_758869.1:n.*783T>C | |
| NM_172361.2:c.*783T>C (CD46) | NP_758871.1:n.*783T>C | |
| XM_011509563.1:c.*783T>C (CD46) | XP_011507865.1:n.*783T>C | |
| XM_011509564.1:c.*783T>C (CD46) | XP_011507866.1:n.*783T>C | |
| XR_922496.1:n.7666+11631A>G (MIR29B2CHG) | ||
| XR_922497.1:n.6305+21555A>G (MIR29B2CHG) | ||
| NM_172355.2:c.*897T>C (CD46) | NP_758865.1:n.*897T>C | |
| NM_172356.2:c.*783T>C (CD46) | NP_758866.1:n.*783T>C | |
| NM_172357.2:c.*897T>C (CD46) | NP_758867.1:n.*897T>C | |
| NM_172358.2:c.*779T>C (CD46) | NP_758868.1:n.*779T>C | |
| XM_011509563.2:c.*783T>C (CD46) | XP_011507865.1:n.*783T>C | |
| XM_017001308.2:c.*897T>C (CD46) | XP_016856797.1:n.*897T>C | |
| XR_001737177.2:n.3089T>C (CD46) | ||
| XR_002956621.1:n.3627T>C (CD46) | ||
| XR_002956622.1:n.3720T>C (CD46) | ||
| NM_153826.4:c.*783T>C (CD46) | NP_722548.1:n.*783T>C | |
| NM_172350.3:c.*779T>C (CD46) | NP_758860.1:n.*779T>C | |
| NM_172351.3:c.*897T>C (CD46) MANE Select | NP_758861.1:n.*897T>C | |
| NM_172352.3:c.*897T>C (CD46) | NP_758862.1:n.*897T>C | |
| NM_172353.3:c.*783T>C (CD46) | NP_758863.1:n.*783T>C | |
| NM_172355.3:c.*897T>C (CD46) | NP_758865.1:n.*897T>C | |
| NM_172356.3:c.*783T>C (CD46) | NP_758866.1:n.*783T>C | |
| NM_172357.3:c.*897T>C (CD46) | NP_758867.1:n.*897T>C | |
| NM_172358.3:c.*779T>C (CD46) | NP_758868.1:n.*779T>C | |
| NM_172359.3:c.*783T>C (CD46) | NP_758869.1:n.*783T>C | |
| NM_172361.3:c.*783T>C (CD46) | NP_758871.1:n.*783T>C |