Linked Data
ClinVar Variation Id:
356199
ClinVar RCV Id:
RCV000301784
dbSNP Id:
rs373610457
gnomAD v3:
6-26094527-C-A
gnomAD v4:
6-26094527-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26094527C>A , CM000668.2:g.26094527C>A | GRCh38 |
| NC_000006.11:g.26094755C>A , CM000668.1:g.26094755C>A | GRCh37 |
| NC_000006.10:g.26202734C>A | NCBI36 |
| NG_008720.2:g.12247C>A , LRG_748:g.12247C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485729.2:c.*116C>A (HFE) | ENSP00000417534.2:n.*116C>A | |
| ENST00000707188.1:c.391-3493G>T (H2BC4) | ENSP00000516775.1:n.391-3493G>T | |
| ENST00000357618.10:c.*301C>A (HFE) MANE Select | ENSP00000417404.1:n.*301C>A | |
| ENST00000309234.10:c.*116C>A (HFE) | ENSP00000311698.6:n.*116C>A | |
| ENST00000317896.11:c.*301C>A (HFE) | ENSP00000313776.7:n.*301C>A | |
| ENST00000349999.8:c.*301C>A (HFE) | ENSP00000259699.6:n.*301C>A | |
| ENST00000357618.9:c.*301C>A (HFE) | ENSP00000417404.1:n.*301C>A | |
| ENST00000485729.1:c.284C>A (HFE) | ENSP00000417534.1:n.284C>A | |
| ENST00000629531.1:c.132+29246G>T (H2BC3) | ENSP00000486472.1:n.132+29246G>T | |
| NM_000410.3:c.*301C>A , LRG_748t1:c.*301C>A (HFE) | NP_000401.1:n.*301C>A | |
| NM_001300749.1:c.*116C>A (HFE) | NP_001287678.1:n.*116C>A | |
| NM_139003.2:c.*301C>A (HFE) | NP_620572.1:n.*301C>A | |
| NM_139004.2:c.*301C>A (HFE) | NP_620573.1:n.*301C>A | |
| NM_139006.2:c.*301C>A (HFE) | NP_620575.1:n.*301C>A | |
| NM_139007.2:c.*301C>A (HFE) | NP_620576.1:n.*301C>A | |
| NM_139008.2:c.*301C>A (HFE) | NP_620577.1:n.*301C>A | |
| NM_139009.2:c.*301C>A (HFE) | NP_620578.1:n.*301C>A | |
| NM_139010.2:c.*301C>A (HFE) | NP_620579.1:n.*301C>A | |
| NM_139011.2:c.*301C>A (HFE) | NP_620580.1:n.*301C>A | |
| XM_011514543.1:c.*116C>A (HFE) | XP_011512845.1:n.*116C>A | |
| XM_011514544.1:c.*301C>A (HFE) | XP_011512846.1:n.*301C>A | |
| XM_011514543.3:c.*116C>A (HFE) | XP_011512845.1:n.*116C>A | |
| NM_001300749.2:c.*116C>A (HFE) | NP_001287678.1:n.*116C>A | |
| NM_139003.3:c.*301C>A (HFE) | NP_620572.1:n.*301C>A | |
| NM_139004.3:c.*301C>A (HFE) | NP_620573.1:n.*301C>A | |
| NM_139006.3:c.*301C>A (HFE) | NP_620575.1:n.*301C>A | |
| NM_139007.3:c.*301C>A (HFE) | NP_620576.1:n.*301C>A | |
| NM_139008.3:c.*301C>A (HFE) | NP_620577.1:n.*301C>A | |
| NM_139009.3:c.*301C>A (HFE) | NP_620578.1:n.*301C>A | |
| NM_139010.3:c.*301C>A (HFE) | NP_620579.1:n.*301C>A | |
| NM_139011.3:c.*301C>A (HFE) | NP_620580.1:n.*301C>A | |
| NM_000410.4:c.*301C>A (HFE) MANE Select | NP_000401.1:n.*301C>A | |
| NM_001384164.1:c.*116C>A (HFE) | NP_001371093.1:n.*116C>A |