Canonical Allele Identifier: CA1616889973

Gene: HFE H2BC4 H2BC3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092947C= , CM000668.2:g.26092947C=	GRCh38
NC_000006.11:g.26093175C= , CM000668.1:g.26093175C=	GRCh37
NC_000006.10:g.26201154C=	NCBI36
NG_008720.2:g.10667C= , LRG_748:g.10667C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.879C= (HFE)	ENSP00000417534.2:p.Leu293=
ENST00000707188.1:c.391-1913G= (H2BC4)	ENSP00000516775.1:n.391-1913G=
ENST00000357618.10:c.879C= (HFE) MANE Select	ENSP00000417404.1:p.Leu293=
ENST00000309234.10:c.879C= (HFE)	ENSP00000311698.6:p.Leu293=
ENST00000317896.11:c.603C= (HFE)	ENSP00000313776.7:p.Leu201=
ENST00000336625.12:c.561C= (HFE)	ENSP00000337819.8:p.Leu187=
ENST00000349999.8:c.615C= (HFE)	ENSP00000259699.6:p.Leu205=
ENST00000352392.8:c.77-172C= (HFE)	ENSP00000315936.4:n.77-172C=
ENST00000353147.9:c.339C= (HFE)	ENSP00000312342.5:p.Leu113=
ENST00000357618.9:c.879C= (HFE)	ENSP00000417404.1:p.Leu293=
ENST00000397022.7:c.810C= (HFE)	ENSP00000380217.3:p.Leu270=
ENST00000461397.5:c.837C= (HFE)	ENSP00000420802.1:p.Leu279=
ENST00000470149.5:c.870C= (HFE)	ENSP00000419725.1:p.Leu290=
ENST00000483782.1:n.1210C= (HFE)
ENST00000486147.1:n.722C= (HFE)
ENST00000488199.5:c.573C= (HFE)	ENSP00000420559.1:p.Leu191=
ENST00000629531.1:c.132+30826G= (H2BC3)	ENSP00000486472.1:n.132+30826G=
NM_000410.3:c.879C= , LRG_748t1:c.879C= (HFE)	NP_000401.1:p.Leu293=
NM_001300749.1:c.879C= (HFE)	NP_001287678.1:p.Leu293=
NM_139003.2:c.561C= (HFE)	NP_620572.1:p.Leu187=
NM_139004.2:c.603C= (HFE)	NP_620573.1:p.Leu201=
NM_139006.2:c.837C= (HFE)	NP_620575.1:p.Leu279=
NM_139007.2:c.615C= (HFE)	NP_620576.1:p.Leu205=
NM_139008.2:c.573C= (HFE)	NP_620577.1:p.Leu191=
NM_139009.2:c.810C= (HFE)	NP_620578.1:p.Leu270=
NM_139010.2:c.339C= (HFE)	NP_620579.1:p.Leu113=
NM_139011.2:c.77-172C= (HFE)	NP_620580.1:n.77-172C=
XM_011514543.1:c.879C= (HFE)	XP_011512845.1:p.Leu293=
XM_011514544.1:c.870C= (HFE)	XP_011512846.1:p.Leu290=
XR_241893.2:n.1001C= (HFE)
XM_011514543.3:c.879C= (HFE)	XP_011512845.1:p.Leu293=
XR_241893.4:n.973C= (HFE)
NM_001300749.2:c.879C= (HFE)	NP_001287678.1:p.Leu293=
NM_139003.3:c.561C= (HFE)	NP_620572.1:p.Leu187=
NM_139004.3:c.603C= (HFE)	NP_620573.1:p.Leu201=
NM_139006.3:c.837C= (HFE)	NP_620575.1:p.Leu279=
NM_139007.3:c.615C= (HFE)	NP_620576.1:p.Leu205=
NM_139008.3:c.573C= (HFE)	NP_620577.1:p.Leu191=
NM_139009.3:c.810C= (HFE)	NP_620578.1:p.Leu270=
NM_139010.3:c.339C= (HFE)	NP_620579.1:p.Leu113=
NM_139011.3:c.77-172C= (HFE)	NP_620580.1:n.77-172C=
NM_000410.4:c.879C= (HFE) MANE Select	NP_000401.1:p.Leu293=
NM_001384164.1:c.879C= (HFE)	NP_001371093.1:p.Leu293=