Linked Data
ClinVar Variation Id:
2004128
ClinVar RCV Id:
RCV002815876
dbSNP Id:
rs1230304944
gnomAD v2:
1-207958416-A-G
gnomAD v3:
1-207785071-A-G
gnomAD v4:
1-207785071-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207785071A>G , CM000663.2:g.207785071A>G | GRCh38 |
| NC_000001.10:g.207958416A>G , CM000663.1:g.207958416A>G | GRCh37 |
| NC_000001.9:g.206025039A>G | NCBI36 |
| NG_009296.1:g.38015A>G , LRG_155:g.38015A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490278.2:n.2157A>G (CD46) | ||
| ENST00000496723.2:n.1734A>G (CD46) | ||
| ENST00000636114.2:n.2676A>G (CD46) | ||
| ENST00000695777.1:c.983A>G (CD46) | ENSP00000512167.1:p.Asp328Gly | |
| ENST00000695778.1:c.938A>G (CD46) | ENSP00000512168.1:p.Asp313Gly | |
| ENST00000695779.1:n.1700A>G (CD46) | ||
| ENST00000695780.1:c.938-585A>G (CD46) | ENSP00000512169.1:n.938-585A>G | |
| ENST00000695781.1:c.*66A>G (CD46) | ENSP00000512170.1:n.*66A>G | |
| ENST00000695782.1:c.938A>G (CD46) | ENSP00000512171.1:p.Asp313Gly | |
| ENST00000695783.1:n.4351A>G (CD46) | ||
| ENST00000695784.1:c.*109A>G (CD46) | ENSP00000512172.1:n.*109A>G | |
| ENST00000695786.1:n.905A>G (CD46) | ||
| ENST00000695787.1:n.2341A>G (CD46) | ||
| ENST00000695788.1:n.562A>G (CD46) | ||
| ENST00000695789.1:n.2234A>G (CD46) | ||
| ENST00000695790.1:n.2223A>G (CD46) | ||
| ENST00000367042.6:c.983A>G (CD46) MANE Select | ENSP00000356009.1:p.Asp328Gly | |
| ENST00000636114.1:n.737A>G (CD46) | ||
| ENST00000322875.8:c.1028A>G (CD46) | ENSP00000313875.4:p.Asp343Gly | |
| ENST00000322918.9:c.938A>G (CD46) | ENSP00000314664.5:p.Asp313Gly | |
| ENST00000354848.5:c.983A>G (CD46) | ENSP00000346912.1:p.Asp328Gly | |
| ENST00000357714.5:c.938A>G (CD46) | ENSP00000350346.1:p.Asp313Gly | |
| ENST00000358170.6:c.1028A>G (CD46) | ENSP00000350893.2:p.Asp343Gly | |
| ENST00000360212.6:c.896A>G (CD46) | ENSP00000353342.2:p.Asp299Gly | |
| ENST00000367041.5:c.938A>G (CD46) | ENSP00000356008.1:p.Asp313Gly | |
| ENST00000367042.5:c.983A>G (CD46) | ENSP00000356009.1:p.Asp328Gly | |
| ENST00000367047.5:c.839A>G (CD46) | ENSP00000356014.1:p.Asp280Gly | |
| ENST00000462968.2:c.64A>G (CD46) | ||
| ENST00000469535.5:n.5732A>G (CD46) | ||
| ENST00000471987.1:n.93A>G (CD46) | ||
| ENST00000480003.5:c.941A>G (CD46) | ENSP00000418471.1:p.Asp314Gly | |
| ENST00000488596.5:n.362A>G (CD46) | ||
| NM_002389.4:c.1028A>G , LRG_155t1:c.1028A>G (CD46) | NP_002380.3:p.Asp343Gly | |
| NM_153826.3:c.983A>G (CD46) | NP_722548.1:p.Asp328Gly | |
| NM_172350.2:c.938A>G (CD46) | NP_758860.1:p.Asp313Gly | |
| NM_172351.2:c.983A>G (CD46) | NP_758861.1:p.Asp328Gly | |
| NM_172352.2:c.938A>G (CD46) | NP_758862.1:p.Asp313Gly | |
| NM_172353.2:c.938A>G (CD46) | NP_758863.1:p.Asp313Gly | |
| NM_172359.2:c.1028A>G (CD46) | NP_758869.1:p.Asp343Gly | |
| NM_172361.2:c.896A>G (CD46) | NP_758871.1:p.Asp299Gly | |
| XM_011509563.1:c.986A>G (CD46) | XP_011507865.1:p.Asp329Gly | |
| XM_011509564.1:c.941A>G (CD46) | XP_011507866.1:p.Asp314Gly | |
| XR_922496.1:n.7666+20934T>C (MIR29B2CHG) | ||
| XR_922497.1:n.6306-22083T>C (MIR29B2CHG) | ||
| NM_172355.2:c.941A>G (CD46) | NP_758865.1:p.Asp314Gly | |
| NM_172356.2:c.941A>G (CD46) | NP_758866.1:p.Asp314Gly | |
| NM_172357.2:c.896A>G (CD46) | NP_758867.1:p.Asp299Gly | |
| NM_172358.2:c.983A>G (CD46) | NP_758868.1:p.Asp328Gly | |
| XM_011509563.2:c.986A>G (CD46) | XP_011507865.1:p.Asp329Gly | |
| XM_017001308.2:c.986A>G (CD46) | XP_016856797.1:p.Asp329Gly | |
| XR_001737177.2:n.2134A>G (CD46) | ||
| XR_002956621.1:n.2672A>G (CD46) | ||
| XR_002956622.1:n.2672A>G (CD46) | ||
| NM_153826.4:c.983A>G (CD46) | NP_722548.1:p.Asp328Gly | |
| NM_172350.3:c.938A>G (CD46) | NP_758860.1:p.Asp313Gly | |
| NM_172351.3:c.983A>G (CD46) MANE Select | NP_758861.1:p.Asp328Gly | |
| NM_172352.3:c.938A>G (CD46) | NP_758862.1:p.Asp313Gly | |
| NM_172353.3:c.938A>G (CD46) | NP_758863.1:p.Asp313Gly | |
| NM_172355.3:c.941A>G (CD46) | NP_758865.1:p.Asp314Gly | |
| NM_172356.3:c.941A>G (CD46) | NP_758866.1:p.Asp314Gly | |
| NM_172357.3:c.896A>G (CD46) | NP_758867.1:p.Asp299Gly | |
| NM_172358.3:c.983A>G (CD46) | NP_758868.1:p.Asp328Gly | |
| NM_172359.3:c.1028A>G (CD46) | NP_758869.1:p.Asp343Gly | |
| NM_172361.3:c.896A>G (CD46) | NP_758871.1:p.Asp299Gly |