Linked Data
dbSNP Id:
rs6130608
gnomAD v2:
20-43024008-T-C
gnomAD v3:
20-44395368-T-C
gnomAD v4:
20-44395368-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44395368T>C , CM000682.2:g.44395368T>C | GRCh38 |
| NC_000020.10:g.43024008T>C , CM000682.1:g.43024008T>C | GRCh37 |
| NC_000020.9:g.42457422T>C | NCBI36 |
| NG_009818.1:g.44568T>C , LRG_483:g.44568T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316673.9:c.50-10690T>C (HNF4A) MANE Select | ENSP00000315180.4:n.50-10690T>C | |
| ENST00000316673.8:c.50-10690T>C (HNF4A) | ENSP00000315180.4:n.50-10690T>C | |
| ENST00000457232.5:c.50-10690T>C (HNF4A) | ENSP00000396216.1:n.50-10690T>C | |
| ENST00000609262.5:c.40+4689T>C (HNF4A) | ENSP00000476310.1:n.40+4689T>C | |
| ENST00000609795.5:c.50-10690T>C (HNF4A) | ENSP00000476609.1:n.50-10690T>C | |
| ENST00000619550.4:c.40+4689T>C (HNF4A) | ENSP00000481331.1:n.40+4689T>C | |
| NM_001030003.2:c.50-10690T>C (HNF4A) | NP_001025174.1:n.50-10690T>C | |
| NM_001030004.2:c.50-10690T>C (HNF4A) | NP_001025175.1:n.50-10690T>C | |
| NM_001287182.1:c.40+4689T>C (HNF4A) | NP_001274111.1:n.40+4689T>C | |
| NM_001287183.1:c.40+4689T>C , LRG_483t3:c.40+4689T>C (HNF4A) | NP_001274112.1:n.40+4689T>C | |
| NM_001287184.1:c.40+4689T>C (HNF4A) | NP_001274113.1:n.40+4689T>C | |
| NM_175914.4:c.50-10690T>C , LRG_483t1:c.50-10690T>C (HNF4A) | NP_787110.2:n.50-10690T>C | |
| NR_109949.1:n.254+85A>G (HNF4A-AS1) | ||
| NM_001030003.3:c.50-10690T>C (HNF4A) | NP_001025174.1:n.50-10690T>C | |
| NM_001030004.3:c.50-10690T>C (HNF4A) | NP_001025175.1:n.50-10690T>C | |
| NM_001287182.2:c.40+4689T>C (HNF4A) | NP_001274111.1:n.40+4689T>C | |
| NM_001287184.2:c.40+4689T>C (HNF4A) | NP_001274113.1:n.40+4689T>C | |
| NM_001287183.2:c.40+4689T>C (HNF4A) | NP_001274112.1:n.40+4689T>C | |
| NM_175914.5:c.50-10690T>C (HNF4A) MANE Select | NP_787110.2:n.50-10690T>C | |
| NR_172878.1:n.210+85A>G (HNF4A-AS1) | ||
| NR_172879.1:n.210+85A>G (HNF4A-AS1) |