Linked Data
ClinVar Variation Id:
292205
ClinVar RCV Id:
RCV000357197
dbSNP Id:
rs886045184
gnomAD v3:
1-11789149-G-A
gnomAD v4:
1-11789149-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11789149G>A , CM000663.2:g.11789149G>A | GRCh38 |
| NC_000001.10:g.11849206G>A , CM000663.1:g.11849206G>A | GRCh37 |
| NC_000001.9:g.11771793G>A | NCBI36 |
| NG_013351.1:g.21955C>T , LRG_726:g.21955C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433342.6:c.3673-121G>A (C1orf167) | ENSP00000414909.3:n.3673-121G>A | |
| ENST00000688073.1:c.4174-121G>A (C1orf167) MANE Select | ENSP00000510540.1:n.4174-121G>A | |
| ENST00000376585.6:c.*1531C>T (MTHFR) | ENSP00000365770.1:n.*1531C>T | |
| ENST00000376590.9:c.*1531C>T (MTHFR) MANE Select | ENSP00000365775.3:n.*1531C>T | |
| ENST00000376592.6:c.*1531C>T (MTHFR) | ENSP00000365777.1:n.*1531C>T | |
| ENST00000312793.9:c.2309-121G>A (C1orf167) | ||
| ENST00000376583.7:c.3625C>T (MTHFR) | ENSP00000365767.3:n.3625C>T | |
| ENST00000376585.5:c.*1531C>T (MTHFR) | ENSP00000365770.1:n.*1531C>T | |
| ENST00000376590.7:c.*1531C>T (MTHFR) | ENSP00000365775.3:n.*1531C>T | |
| ENST00000376592.5:c.*1531C>T (MTHFR) | ENSP00000365777.1:n.*1531C>T | |
| ENST00000433342.5:c.4231-121G>A (C1orf167) | ENSP00000414909.2:n.4231-121G>A | |
| ENST00000444493.5:c.1673-121G>A (C1orf167) | ||
| ENST00000449278.1:c.1409-121G>A (C1orf167) | ||
| ENST00000482358.1:n.468-121G>A (C1orf167) | ||
| NM_001010881.1:c.4174-121G>A (C1orf167) | NP_001010881.1:n.4174-121G>A | |
| NM_005957.4:c.*1531C>T , LRG_726t1:c.*1531C>T (MTHFR) | NP_005948.3:n.*1531C>T | |
| XM_011541272.1:c.4309-121G>A (C1orf167) | XP_011539574.1:n.4309-121G>A | |
| XM_011541276.1:c.4215-121G>A (C1orf167) | XP_011539578.1:n.4215-121G>A | |
| XM_011541277.1:c.4120-121G>A (C1orf167) | XP_011539579.1:n.4120-121G>A | |
| XM_011541278.1:c.4214-121G>A (C1orf167) | XP_011539580.1:n.4214-121G>A | |
| NM_001330358.1:c.*1531C>T (MTHFR) | NP_001317287.1:n.*1531C>T | |
| XM_011541272.3:c.4309-121G>A (C1orf167) | XP_011539574.1:n.4309-121G>A | |
| XM_011541276.3:c.4215-121G>A (C1orf167) | XP_011539578.1:n.4215-121G>A | |
| XM_011541277.3:c.4120-121G>A (C1orf167) | XP_011539579.1:n.4120-121G>A | |
| XM_011541278.2:c.4214-121G>A (C1orf167) | XP_011539580.1:n.4214-121G>A | |
| XM_024446506.1:c.*106G>A (C1orf167) | XP_024302274.1:n.*106G>A | |
| XM_024446507.1:c.*106G>A (C1orf167) | XP_024302275.1:n.*106G>A | |
| XM_024446508.1:c.*106G>A (C1orf167) | XP_024302276.1:n.*106G>A | |
| XM_024446509.1:c.*106G>A (C1orf167) | XP_024302277.1:n.*106G>A | |
| XM_024446512.1:c.*106G>A (C1orf167) | XP_024302280.1:n.*106G>A | |
| XM_024446514.1:c.*106G>A (C1orf167) | XP_024302282.1:n.*106G>A | |
| XM_024446515.1:c.*106G>A (C1orf167) | XP_024302283.1:n.*106G>A | |
| XM_024446517.1:c.*106G>A (C1orf167) | XP_024302285.1:n.*106G>A | |
| XM_024446518.1:c.*106G>A (C1orf167) | XP_024302286.1:n.*106G>A | |
| NM_001010881.2:c.4174-121G>A (C1orf167) MANE Select | NP_001010881.1:n.4174-121G>A | |
| NM_005957.5:c.*1531C>T (MTHFR) MANE Select | NP_005948.3:n.*1531C>T | |
| NM_001330358.2:c.*1531C>T (MTHFR) | NP_001317287.1:n.*1531C>T |