COSMIC:
COSM1385796 (not active)
COSM1385797 (not active)
COSM4130583 (not active)
Revel Score:
ENST00000326165 (MANE Select)
0.012
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83697536 (MID)
Genomes Max Group AF
0.80983541 (NFE)
Exomes Max Group AF
0.83628096 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74695789T>C , CM000679.2:g.74695789T>C | GRCh38 |
| NC_000017.10:g.72691928T>C , CM000679.1:g.72691928T>C | GRCh37 |
| NC_000017.9:g.70203523T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326165.11:c.653A>G (CD300LF) MANE Select | ENSP00000327075.6:p.Gln218Arg | |
| ENST00000301573.13:c.699A>G (CD300LF) | ENSP00000301573.9:p.Ala233= | |
| ENST00000326165.10:c.653A>G (CD300LF) | ENSP00000327075.6:p.Gln218Arg | |
| ENST00000340415.7:c.72+24131T>C (RAB37) | ENSP00000341354.3:n.72+24131T>C | |
| ENST00000343125.8:c.549A>G (CD300LF) | ENSP00000343751.4:p.Ala183= | |
| ENST00000361254.8:c.684A>G (CD300LF) | ENSP00000355294.4:p.Ala228= | |
| ENST00000392617.7:n.479+24131T>C (RAB37) | ||
| ENST00000402449.8:c.72+24131T>C (RAB37) | ENSP00000383934.4:n.72+24131T>C | |
| ENST00000462044.5:c.*28A>G (CD300LF) | ENSP00000464223.1:n.*28A>G | |
| ENST00000464910.5:c.662A>G (CD300LF) | ENSP00000464257.1:p.Gln221Arg | |
| ENST00000469092.5:c.549A>G (CD300LF) | ENSP00000463743.1:p.Ala183= | |
| ENST00000581500.1:c.684A>G (CD300LF) | ENSP00000464610.1:p.Ala228= | |
| ENST00000583937.5:c.698A>G (CD300LF) | ENSP00000462309.1:p.Gln233Arg | |
| NM_001289082.1:c.549A>G (CD300LF) | NP_001276011.1:p.Ala183= | |
| NM_001289083.1:c.699A>G (CD300LF) | NP_001276012.1:p.Ala233= | |
| NM_001289084.1:c.698A>G (CD300LF) | NP_001276013.1:p.Gln233Arg | |
| NM_001289085.1:c.662A>G (CD300LF) | NP_001276014.1:p.Gln221Arg | |
| NM_001289086.1:c.684A>G (CD300LF) | NP_001276015.1:p.Ala228= | |
| NM_001289087.1:c.630A>G (CD300LF) | NP_001276016.1:p.Ala210= | |
| NM_139018.4:c.653A>G (CD300LF) | NP_620587.2:p.Gln218Arg | |
| NM_175738.4:c.72+24131T>C (RAB37) | NP_783865.1:n.72+24131T>C | |
| NR_110298.1:n.825A>G (CD300LF) | ||
| XM_011524369.1:c.785A>G (CD300LF) | XP_011522671.1:p.Gln262Arg | |
| XM_011524370.1:c.776A>G (CD300LF) | XP_011522672.1:p.Gln259Arg | |
| XM_011524371.1:c.776A>G (CD300LF) | XP_011522673.1:p.Gln259Arg | |
| XM_011524372.1:c.740A>G (CD300LF) | XP_011522674.1:p.Gln247Arg | |
| XM_011524373.1:c.731A>G (CD300LF) | XP_011522675.1:p.Gln244Arg | |
| XM_011524374.1:c.731A>G (CD300LF) | XP_011522676.1:p.Gln244Arg | |
| XM_011524375.1:c.707A>G (CD300LF) | XP_011522677.1:p.Gln236Arg | |
| XM_011524376.1:c.762A>G (CD300LF) | XP_011522678.1:p.Ala254= | |
| XM_011524377.1:c.762A>G (CD300LF) | XP_011522679.1:p.Ala254= | |
| XM_011524378.1:c.753A>G (CD300LF) | XP_011522680.1:p.Ala251= | |
| XM_011524379.1:c.717A>G (CD300LF) | XP_011522681.1:p.Ala239= | |
| XM_017024212.2:c.710A>G (CD300LF) | XP_016879701.1:p.Gln237Arg | |
| XM_017024213.2:c.765A>G (CD300LF) | XP_016879702.1:p.Ala255= | |
| XM_017024214.2:c.756A>G (CD300LF) | XP_016879703.1:p.Ala252= | |
| XM_017024215.1:c.708A>G (CD300LF) | XP_016879704.1:p.Ala236= | |
| XM_017024216.2:c.687A>G (CD300LF) | XP_016879705.1:p.Ala229= | |
| XM_017024217.2:c.675A>G (CD300LF) | XP_016879706.1:p.Ala225= | |
| NM_139018.5:c.653A>G (CD300LF) MANE Select | NP_620587.2:p.Gln218Arg | |
| NM_001289082.2:c.549A>G (CD300LF) | NP_001276011.1:p.Ala183= | |
| NM_001289083.2:c.699A>G (CD300LF) | NP_001276012.1:p.Ala233= | |
| NM_001289084.2:c.698A>G (CD300LF) | NP_001276013.1:p.Gln233Arg | |
| NM_001289085.2:c.662A>G (CD300LF) | NP_001276014.1:p.Gln221Arg | |
| NM_001289086.2:c.684A>G (CD300LF) | NP_001276015.1:p.Ala228= | |
| NM_001289087.2:c.630A>G (CD300LF) | NP_001276016.1:p.Ala210= | |
| NM_175738.5:c.72+24131T>C (RAB37) | NP_783865.1:n.72+24131T>C | |
| NR_110298.2:n.748A>G (CD300LF) |