Canonical Allele Identifier: CA363208523

Gene: HFE H2BC4 H2BC3

Linked Data

• ClinVar Variation Id: 2751130
• ClinVar RCV Id: RCV003589475
• MyVariant Identifiers: chr6:g.26093136T>A (hg19) ; chr6:g.26092908T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092908T>A , CM000668.2:g.26092908T>A	GRCh38
NC_000006.11:g.26093136T>A , CM000668.1:g.26093136T>A	GRCh37
NC_000006.10:g.26201115T>A	NCBI36
NG_008720.2:g.10628T>A , LRG_748:g.10628T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.840T>A (HFE)	ENSP00000417534.2:p.Tyr280Ter
ENST00000707188.1:c.391-1874A>T (H2BC4)	ENSP00000516775.1:n.391-1874A>T
ENST00000357618.10:c.840T>A (HFE) MANE Select	ENSP00000417404.1:p.Tyr280Ter
ENST00000309234.10:c.840T>A (HFE)	ENSP00000311698.6:p.Tyr280Ter
ENST00000317896.11:c.564T>A (HFE)	ENSP00000313776.7:p.Tyr188Ter
ENST00000336625.12:c.522T>A (HFE)	ENSP00000337819.8:p.Tyr174Ter
ENST00000349999.8:c.576T>A (HFE)	ENSP00000259699.6:p.Tyr192Ter
ENST00000352392.8:c.77-211T>A (HFE)	ENSP00000315936.4:n.77-211T>A
ENST00000353147.9:c.300T>A (HFE)	ENSP00000312342.5:p.Tyr100Ter
ENST00000357618.9:c.840T>A (HFE)	ENSP00000417404.1:p.Tyr280Ter
ENST00000397022.7:c.771T>A (HFE)	ENSP00000380217.3:p.Tyr257Ter
ENST00000461397.5:c.798T>A (HFE)	ENSP00000420802.1:p.Tyr266Ter
ENST00000470149.5:c.831T>A (HFE)	ENSP00000419725.1:p.Tyr277Ter
ENST00000483782.1:n.1171T>A (HFE)
ENST00000486147.1:n.683T>A (HFE)
ENST00000488199.5:c.534T>A (HFE)	ENSP00000420559.1:p.Tyr178Ter
ENST00000629531.1:c.132+30865A>T (H2BC3)	ENSP00000486472.1:n.132+30865A>T
NM_000410.3:c.840T>A , LRG_748t1:c.840T>A (HFE)	NP_000401.1:p.Tyr280Ter
NM_001300749.1:c.840T>A (HFE)	NP_001287678.1:p.Tyr280Ter
NM_139003.2:c.522T>A (HFE)	NP_620572.1:p.Tyr174Ter
NM_139004.2:c.564T>A (HFE)	NP_620573.1:p.Tyr188Ter
NM_139006.2:c.798T>A (HFE)	NP_620575.1:p.Tyr266Ter
NM_139007.2:c.576T>A (HFE)	NP_620576.1:p.Tyr192Ter
NM_139008.2:c.534T>A (HFE)	NP_620577.1:p.Tyr178Ter
NM_139009.2:c.771T>A (HFE)	NP_620578.1:p.Tyr257Ter
NM_139010.2:c.300T>A (HFE)	NP_620579.1:p.Tyr100Ter
NM_139011.2:c.77-211T>A (HFE)	NP_620580.1:n.77-211T>A
XM_011514543.1:c.840T>A (HFE)	XP_011512845.1:p.Tyr280Ter
XM_011514544.1:c.831T>A (HFE)	XP_011512846.1:p.Tyr277Ter
XR_241893.2:n.962T>A (HFE)
XM_011514543.3:c.840T>A (HFE)	XP_011512845.1:p.Tyr280Ter
XR_241893.4:n.934T>A (HFE)
NM_001300749.2:c.840T>A (HFE)	NP_001287678.1:p.Tyr280Ter
NM_139003.3:c.522T>A (HFE)	NP_620572.1:p.Tyr174Ter
NM_139004.3:c.564T>A (HFE)	NP_620573.1:p.Tyr188Ter
NM_139006.3:c.798T>A (HFE)	NP_620575.1:p.Tyr266Ter
NM_139007.3:c.576T>A (HFE)	NP_620576.1:p.Tyr192Ter
NM_139008.3:c.534T>A (HFE)	NP_620577.1:p.Tyr178Ter
NM_139009.3:c.771T>A (HFE)	NP_620578.1:p.Tyr257Ter
NM_139010.3:c.300T>A (HFE)	NP_620579.1:p.Tyr100Ter
NM_139011.3:c.77-211T>A (HFE)	NP_620580.1:n.77-211T>A
NM_000410.4:c.840T>A (HFE) MANE Select	NP_000401.1:p.Tyr280Ter
NM_001384164.1:c.840T>A (HFE)	NP_001371093.1:p.Tyr280Ter