Canonical Allele Identifier: CA363208736

Gene: HFE H2BC4 H2BC3

Linked Data

• MyVariant Identifiers: chr6:g.26093169G>T (hg19) ; chr6:g.26092941G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092941G>T , CM000668.2:g.26092941G>T	GRCh38
NC_000006.11:g.26093169G>T , CM000668.1:g.26093169G>T	GRCh37
NC_000006.10:g.26201148G>T	NCBI36
NG_008720.2:g.10661G>T , LRG_748:g.10661G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000485729.2:c.873G>T (HFE)	ENSP00000417534.2:p.Gln291His
ENST00000707188.1:c.391-1907C>A (H2BC4)	ENSP00000516775.1:n.391-1907C>A
ENST00000357618.10:c.873G>T (HFE) MANE Select	ENSP00000417404.1:p.Gln291His
ENST00000309234.10:c.873G>T (HFE)	ENSP00000311698.6:p.Gln291His
ENST00000317896.11:c.597G>T (HFE)	ENSP00000313776.7:p.Gln199His
ENST00000336625.12:c.555G>T (HFE)	ENSP00000337819.8:p.Gln185His
ENST00000349999.8:c.609G>T (HFE)	ENSP00000259699.6:p.Gln203His
ENST00000352392.8:c.77-178G>T (HFE)	ENSP00000315936.4:n.77-178G>T
ENST00000353147.9:c.333G>T (HFE)	ENSP00000312342.5:p.Gln111His
ENST00000357618.9:c.873G>T (HFE)	ENSP00000417404.1:p.Gln291His
ENST00000397022.7:c.804G>T (HFE)	ENSP00000380217.3:p.Gln268His
ENST00000461397.5:c.831G>T (HFE)	ENSP00000420802.1:p.Gln277His
ENST00000470149.5:c.864G>T (HFE)	ENSP00000419725.1:p.Gln288His
ENST00000483782.1:n.1204G>T (HFE)
ENST00000486147.1:n.716G>T (HFE)
ENST00000488199.5:c.567G>T (HFE)	ENSP00000420559.1:p.Gln189His
ENST00000629531.1:c.132+30832C>A (H2BC3)	ENSP00000486472.1:n.132+30832C>A
NM_000410.3:c.873G>T , LRG_748t1:c.873G>T (HFE)	NP_000401.1:p.Gln291His
NM_001300749.1:c.873G>T (HFE)	NP_001287678.1:p.Gln291His
NM_139003.2:c.555G>T (HFE)	NP_620572.1:p.Gln185His
NM_139004.2:c.597G>T (HFE)	NP_620573.1:p.Gln199His
NM_139006.2:c.831G>T (HFE)	NP_620575.1:p.Gln277His
NM_139007.2:c.609G>T (HFE)	NP_620576.1:p.Gln203His
NM_139008.2:c.567G>T (HFE)	NP_620577.1:p.Gln189His
NM_139009.2:c.804G>T (HFE)	NP_620578.1:p.Gln268His
NM_139010.2:c.333G>T (HFE)	NP_620579.1:p.Gln111His
NM_139011.2:c.77-178G>T (HFE)	NP_620580.1:n.77-178G>T
XM_011514543.1:c.873G>T (HFE)	XP_011512845.1:p.Gln291His
XM_011514544.1:c.864G>T (HFE)	XP_011512846.1:p.Gln288His
XR_241893.2:n.995G>T (HFE)
XM_011514543.3:c.873G>T (HFE)	XP_011512845.1:p.Gln291His
XR_241893.4:n.967G>T (HFE)
NM_001300749.2:c.873G>T (HFE)	NP_001287678.1:p.Gln291His
NM_139003.3:c.555G>T (HFE)	NP_620572.1:p.Gln185His
NM_139004.3:c.597G>T (HFE)	NP_620573.1:p.Gln199His
NM_139006.3:c.831G>T (HFE)	NP_620575.1:p.Gln277His
NM_139007.3:c.609G>T (HFE)	NP_620576.1:p.Gln203His
NM_139008.3:c.567G>T (HFE)	NP_620577.1:p.Gln189His
NM_139009.3:c.804G>T (HFE)	NP_620578.1:p.Gln268His
NM_139010.3:c.333G>T (HFE)	NP_620579.1:p.Gln111His
NM_139011.3:c.77-178G>T (HFE)	NP_620580.1:n.77-178G>T
NM_000410.4:c.873G>T (HFE) MANE Select	NP_000401.1:p.Gln291His
NM_001384164.1:c.873G>T (HFE)	NP_001371093.1:p.Gln291His