Canonical Allele Identifier: CA363208582

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.26092915C>G , CM000668.2:g.26092915C>G GRCh38
NC_000006.11:g.26093143C>G , CM000668.1:g.26093143C>G GRCh37
NC_000006.10:g.26201122C>G NCBI36
NG_008720.2:g.10635C>G , LRG_748:g.10635C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000485729.2:c.847C>G (HFE) ENSP00000417534.2:p.Gln283Glu
ENST00000707188.1:c.391-1881G>C (H2BC4) ENSP00000516775.1:n.391-1881G>C
ENST00000357618.10:c.847C>G (HFE) MANE Select ENSP00000417404.1:p.Gln283Glu
ENST00000309234.10:c.847C>G (HFE) ENSP00000311698.6:p.Gln283Glu
ENST00000317896.11:c.571C>G (HFE) ENSP00000313776.7:p.Gln191Glu
ENST00000336625.12:c.529C>G (HFE) ENSP00000337819.8:p.Gln177Glu
ENST00000349999.8:c.583C>G (HFE) ENSP00000259699.6:p.Gln195Glu
ENST00000352392.8:c.77-204C>G (HFE) ENSP00000315936.4:n.77-204C>G
ENST00000353147.9:c.307C>G (HFE) ENSP00000312342.5:p.Gln103Glu
ENST00000357618.9:c.847C>G (HFE) ENSP00000417404.1:p.Gln283Glu
ENST00000397022.7:c.778C>G (HFE) ENSP00000380217.3:p.Gln260Glu
ENST00000461397.5:c.805C>G (HFE) ENSP00000420802.1:p.Gln269Glu
ENST00000470149.5:c.838C>G (HFE) ENSP00000419725.1:p.Gln280Glu
ENST00000483782.1:n.1178C>G (HFE)
ENST00000486147.1:n.690C>G (HFE)
ENST00000488199.5:c.541C>G (HFE) ENSP00000420559.1:p.Gln181Glu
ENST00000629531.1:c.132+30858G>C (H2BC3) ENSP00000486472.1:n.132+30858G>C
NM_000410.3:c.847C>G , LRG_748t1:c.847C>G (HFE) NP_000401.1:p.Gln283Glu
NM_001300749.1:c.847C>G (HFE) NP_001287678.1:p.Gln283Glu
NM_139003.2:c.529C>G (HFE) NP_620572.1:p.Gln177Glu
NM_139004.2:c.571C>G (HFE) NP_620573.1:p.Gln191Glu
NM_139006.2:c.805C>G (HFE) NP_620575.1:p.Gln269Glu
NM_139007.2:c.583C>G (HFE) NP_620576.1:p.Gln195Glu
NM_139008.2:c.541C>G (HFE) NP_620577.1:p.Gln181Glu
NM_139009.2:c.778C>G (HFE) NP_620578.1:p.Gln260Glu
NM_139010.2:c.307C>G (HFE) NP_620579.1:p.Gln103Glu
NM_139011.2:c.77-204C>G (HFE) NP_620580.1:n.77-204C>G
XM_011514543.1:c.847C>G (HFE) XP_011512845.1:p.Gln283Glu
XM_011514544.1:c.838C>G (HFE) XP_011512846.1:p.Gln280Glu
XR_241893.2:n.969C>G (HFE)
XM_011514543.3:c.847C>G (HFE) XP_011512845.1:p.Gln283Glu
XR_241893.4:n.941C>G (HFE)
NM_001300749.2:c.847C>G (HFE) NP_001287678.1:p.Gln283Glu
NM_139003.3:c.529C>G (HFE) NP_620572.1:p.Gln177Glu
NM_139004.3:c.571C>G (HFE) NP_620573.1:p.Gln191Glu
NM_139006.3:c.805C>G (HFE) NP_620575.1:p.Gln269Glu
NM_139007.3:c.583C>G (HFE) NP_620576.1:p.Gln195Glu
NM_139008.3:c.541C>G (HFE) NP_620577.1:p.Gln181Glu
NM_139009.3:c.778C>G (HFE) NP_620578.1:p.Gln260Glu
NM_139010.3:c.307C>G (HFE) NP_620579.1:p.Gln103Glu
NM_139011.3:c.77-204C>G (HFE) NP_620580.1:n.77-204C>G
NM_000410.4:c.847C>G (HFE) MANE Select NP_000401.1:p.Gln283Glu
NM_001384164.1:c.847C>G (HFE) NP_001371093.1:p.Gln283Glu