This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
MyVariant.info:
GRCh37
chr12:g.121438294C>G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121000491C>G , CM000674.2:g.121000491C>G | GRCh38 |
| NC_000012.11:g.121438294C>G , CM000674.1:g.121438294C>G | GRCh37 |
| NC_000012.10:g.119922677C>G | NCBI36 |
| NG_011731.2:g.26746C>G , LRG_522:g.26746C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*516-574C>G (HNF1A) | ENSP00000453965.2:n.*516-574C>G | |
| ENST00000257555.11:c.1769-574C>G (HNF1A) MANE Select | ENSP00000257555.5:n.1769-574C>G | |
| ENST00000257555.10:c.1769-574C>G (HNF1A) | ENSP00000257555.4:n.1769-574C>G | |
| ENST00000288757.7:c.*3662G>C (C12orf43) MANE Select | ENSP00000288757.5:n.*3662G>C | |
| ENST00000540108.1:c.*1209-574C>G (HNF1A) | ENSP00000445445.1:n.*1209-574C>G | |
| ENST00000541395.5:c.1862-574C>G (HNF1A) | ENSP00000443112.1:n.1862-574C>G | |
| ENST00000543427.5:c.1232-574C>G (HNF1A) | ENSP00000439721.2:n.1232-574C>G | |
| ENST00000544413.2:c.1790-574C>G (HNF1A) | ENSP00000438804.1:n.1790-574C>G | |
| ENST00000560968.5:c.1586-574C>G (HNF1A) | ||
| ENST00000615446.4:c.557-574C>G (HNF1A) | ENSP00000483994.1:n.557-574C>G | |
| ENST00000617366.4:c.*178-574C>G (HNF1A) | ENSP00000481967.1:n.*178-574C>G | |
| NM_000545.5:c.1769-574C>G , LRG_522t1:c.1769-574C>G (HNF1A) | NP_000536.5:n.1769-574C>G | |
| NM_000545.6:c.1769-574C>G (HNF1A) | NP_000536.5:n.1769-574C>G | |
| NM_001306179.1:c.1790-574C>G (HNF1A) | NP_001293108.1:n.1790-574C>G | |
| XM_005253931.2:c.1862-574C>G (HNF1A) | XP_005253988.1:n.1862-574C>G | |
| XM_024449168.1:c.1862-574C>G (HNF1A) | XP_024304936.1:n.1862-574C>G | |
| NM_000545.8:c.1769-574C>G (HNF1A) MANE Select | NP_000536.6:n.1769-574C>G | |
| NM_001286191.2:c.*3662G>C (C12orf43) | NP_001273120.1:n.*3662G>C | |
| NM_001286196.2:c.*3662G>C (C12orf43) | NP_001273125.1:n.*3662G>C | |
| NM_001306179.2:c.1790-574C>G (HNF1A) | NP_001293108.2:n.1790-574C>G | |
| NM_022895.3:c.*3662G>C (C12orf43) MANE Select | NP_075046.1:n.*3662G>C |