COSMIC:
COSM4142235 (not active)
COSM4142236 (not active)
Revel Score:
ENST00000312793
0.008
ENST00000444493
0.008
ENST00000449278
0.008
ENST00000433342
0.029
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99789135 (NFE)
Genomes Max Group AF
0.9930414 (NFE)
Exomes Max Group AF
0.99784687 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11789390A>G , CM000663.2:g.11789390A>G | GRCh38 |
| NC_000001.10:g.11849447A>G , CM000663.1:g.11849447A>G | GRCh37 |
| NC_000001.9:g.11772034A>G | NCBI36 |
| NG_013351.1:g.21714T>C , LRG_726:g.21714T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433342.6:c.3793A>G (C1orf167) | ENSP00000414909.3:p.Arg1265Gly | |
| ENST00000688073.1:c.4294A>G (C1orf167) MANE Select | ENSP00000510540.1:p.Arg1432Gly | |
| ENST00000376585.6:c.*1290T>C (MTHFR) | ENSP00000365770.1:n.*1290T>C | |
| ENST00000376590.9:c.*1290T>C (MTHFR) MANE Select | ENSP00000365775.3:n.*1290T>C | |
| ENST00000376592.6:c.*1290T>C (MTHFR) | ENSP00000365777.1:n.*1290T>C | |
| ENST00000312793.9:c.2429A>G (C1orf167) | ||
| ENST00000376583.7:c.3384T>C (MTHFR) | ENSP00000365767.3:n.3384T>C | |
| ENST00000376585.5:c.*1290T>C (MTHFR) | ENSP00000365770.1:n.*1290T>C | |
| ENST00000376590.7:c.*1290T>C (MTHFR) | ENSP00000365775.3:n.*1290T>C | |
| ENST00000376592.5:c.*1290T>C (MTHFR) | ENSP00000365777.1:n.*1290T>C | |
| ENST00000433342.5:c.4351A>G (C1orf167) | ENSP00000414909.2:p.Arg1451Gly | |
| ENST00000444493.5:c.1793A>G (C1orf167) | ||
| ENST00000449278.1:c.1529A>G (C1orf167) | ||
| ENST00000482358.1:n.588A>G (C1orf167) | ||
| NM_001010881.1:c.4294A>G (C1orf167) | NP_001010881.1:p.Arg1432Gly | |
| NM_005957.4:c.*1290T>C , LRG_726t1:c.*1290T>C (MTHFR) | NP_005948.3:n.*1290T>C | |
| XM_011541272.1:c.4429A>G (C1orf167) | XP_011539574.1:p.Arg1477Gly | |
| XM_011541276.1:c.4335A>G (C1orf167) | XP_011539578.1:p.Pro1445= | |
| XM_011541277.1:c.4240A>G (C1orf167) | XP_011539579.1:p.Arg1414Gly | |
| NM_001330358.1:c.*1290T>C (MTHFR) | NP_001317287.1:n.*1290T>C | |
| XM_011541272.3:c.4429A>G (C1orf167) | XP_011539574.1:p.Arg1477Gly | |
| XM_011541276.3:c.4335A>G (C1orf167) | XP_011539578.1:p.Pro1445= | |
| XM_011541277.3:c.4240A>G (C1orf167) | XP_011539579.1:p.Arg1414Gly | |
| XM_024446506.1:c.*347A>G (C1orf167) | XP_024302274.1:n.*347A>G | |
| XM_024446507.1:c.*347A>G (C1orf167) | XP_024302275.1:n.*347A>G | |
| XM_024446508.1:c.*347A>G (C1orf167) | XP_024302276.1:n.*347A>G | |
| XM_024446509.1:c.*347A>G (C1orf167) | XP_024302277.1:n.*347A>G | |
| XM_024446512.1:c.*347A>G (C1orf167) | XP_024302280.1:n.*347A>G | |
| XM_024446514.1:c.*347A>G (C1orf167) | XP_024302282.1:n.*347A>G | |
| XM_024446515.1:c.*347A>G (C1orf167) | XP_024302283.1:n.*347A>G | |
| XM_024446517.1:c.*347A>G (C1orf167) | XP_024302285.1:n.*347A>G | |
| XM_024446518.1:c.*347A>G (C1orf167) | XP_024302286.1:n.*347A>G | |
| NM_001010881.2:c.4294A>G (C1orf167) MANE Select | NP_001010881.1:p.Arg1432Gly | |
| NM_005957.5:c.*1290T>C (MTHFR) MANE Select | NP_005948.3:n.*1290T>C | |
| NM_001330358.2:c.*1290T>C (MTHFR) | NP_001317287.1:n.*1290T>C |