Linked Data
ClinVar Variation Id:
5066
dbSNP Id:
rs776746
gnomAD v3:
7-99672916-T-C
gnomAD v4:
7-99672916-T-C
MyVariant Identifiers:
chr7:g.99672916T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99672916T>C , CM000669.2:g.99672916T>C | GRCh38 |
| NG_007938.2:g.12083A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439761.3:c.219-237A>G (CYP3A5) | ENSP00000401269.1:n.219-237A>G | |
| ENST00000646887.1:c.219-237A>G (CYP3A5) | ENSP00000496704.1:n.219-237A>G | |
| ENST00000222982.8:c.219-237A>G (CYP3A5) MANE Select | ENSP00000222982.4:n.219-237A>G | |
| ENST00000339843.6:c.*467-1A>G (CYP3A5) | ENSP00000343074.2:n.*467-1A>G | |
| ENST00000439761.1:c.219-237A>G (CYP3A5) | ENSP00000401269.1:n.219-237A>G | |
| ENST00000456417.5:c.*359-237A>G (CYP3A5) | ENSP00000415399.1:n.*359-237A>G | |
| ENST00000461920.5:n.679-1A>G (CYP3A5) | ||
| ENST00000463364.5:n.289-1A>G (CYP3A5) | ||
| ENST00000463907.5:n.319-1A>G (CYP3A5) | ||
| ENST00000466061.5:n.319-1A>G (CYP3A5) | ||
| ENST00000469622.5:n.333A>G (CYP3A5) | ||
| ENST00000469887.5:n.516-1A>G (CYP3A5) | ||
| ENST00000480723.5:n.276-237A>G (CYP3A5) | ||
| ENST00000481825.5:n.687-1A>G (CYP3A5) | ||
| NM_000777.4:c.219-237A>G (CYP3A5) | NP_000768.1:n.219-237A>G | |
| NM_001190484.2:c.219-237A>G (CYP3A5) | NP_001177413.1:n.219-237A>G | |
| NM_001291829.1:c.-253-1A>G (CYP3A5) | NP_001278758.1:n.-253-1A>G | |
| NM_001291830.1:c.189-237A>G (CYP3A5) | NP_001278759.1:n.189-237A>G | |
| NR_033807.2:n.717-1A>G (CYP3A5) | ||
| XM_006715859.2:c.219-237A>G (CYP3A5) | XP_006715922.1:n.219-237A>G | |
| XM_011515843.1:c.-254A>G (CYP3A5) | XP_011514145.1:n.-254A>G | |
| XM_011515844.1:c.-229-237A>G (CYP3A5) | XP_011514146.1:n.-229-237A>G | |
| XM_011515845.1:c.-463-1A>G (CYP3A5) | XP_011514147.1:n.-463-1A>G | |
| XM_011515846.1:c.-331-237A>G (CYP3A5) | XP_011514148.1:n.-331-237A>G | |
| XM_011515847.1:c.-571-1A>G (CYP3A5) | XP_011514149.1:n.-571-1A>G | |
| XR_927383.1:n.344-237A>G (CYP3A5) | ||
| XR_927402.1:n.1466+48736T>C (ZSCAN25) | ||
| NM_000777.5:c.219-237A>G (CYP3A5) MANE Select | NP_000768.1:n.219-237A>G | |
| XR_927402.2:n.1465+48736T>C (ZSCAN25) | ||
| NM_001190484.3:c.219-237A>G (CYP3A5) | NP_001177413.1:n.219-237A>G | |
| NM_001291829.2:c.-253-1A>G (CYP3A5) | NP_001278758.1:n.-253-1A>G | |
| NM_001291830.2:c.189-237A>G (CYP3A5) | NP_001278759.1:n.189-237A>G | |
| NR_033807.3:n.687-1A>G (CYP3A5) |