MyVariant.info:
GRCh38
chr4:g.99347033C>A
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0676426 (MID)
Genomes Max Group AF
0.02788231 (SAS)
Exomes Max Group AF
0.06842617 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99347033C>A , CM000666.2:g.99347033C>A | GRCh38 |
| NG_011718.1:g.10728G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.6:c.232G>T (ADH1C) MANE Select | ENSP00000426083.1:p.Gly78Ter | |
| ENST00000639454.1:c.18+5625G>T (ADH1B) | ENSP00000491622.1:n.18+5625G>T | |
| ENST00000505942.2:n.301G>T (ADH1C) | ||
| ENST00000510055.5:c.112G>T (ADH1C) | ENSP00000478439.1:p.Gly38Ter | |
| ENST00000511397.3:c.130G>T (ADH1C) | ENSP00000478545.1:p.Gly44Ter | |
| ENST00000515683.5:c.232G>T (ADH1C) | ENSP00000426083.1:p.Gly78Ter | |
| NM_000669.4:c.232G>T (ADH1C) | NP_000660.1:p.Gly78Ter | |
| NR_133005.1:n.602G>T (ADH1C) | ||
| XM_011531588.1:c.130G>T (ADH1C) | XP_011529890.1:p.Gly44Ter | |
| XM_011531589.1:c.112G>T (ADH1C) | XP_011529891.1:p.Gly38Ter | |
| NM_000669.5:c.232G>T (ADH1C) MANE Select | NP_000660.1:p.Gly78Ter | |
| NR_133005.2:n.303G>T (ADH1C) |