Canonical Allele Identifier: CA363207708

Gene: HFE H2BC4 H2BC3

Linked Data

• dbSNP Id: rs1479851385
• gnomAD v3: 6-26092733-C-A
• gnomAD v4: 6-26092733-C-A
• MyVariant Identifiers: chr6:g.26092961C>A (hg19) ; chr6:g.26092733C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092733C>A , CM000668.2:g.26092733C>A	GRCh38
NC_000006.11:g.26092961C>A , CM000668.1:g.26092961C>A	GRCh37
NC_000006.10:g.26200940C>A	NCBI36
NG_008720.2:g.10453C>A , LRG_748:g.10453C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.665C>A (HFE)	ENSP00000417534.2:p.Thr222Asn
ENST00000707188.1:c.391-1699G>T (H2BC4)	ENSP00000516775.1:n.391-1699G>T
ENST00000357618.10:c.665C>A (HFE) MANE Select	ENSP00000417404.1:p.Thr222Asn
ENST00000309234.10:c.665C>A (HFE)	ENSP00000311698.6:p.Thr222Asn
ENST00000317896.11:c.389C>A (HFE)	ENSP00000313776.7:p.Thr130Asn
ENST00000336625.12:c.347C>A (HFE)	ENSP00000337819.8:p.Thr116Asn
ENST00000349999.8:c.401C>A (HFE)	ENSP00000259699.6:p.Thr134Asn
ENST00000352392.8:c.77-386C>A (HFE)	ENSP00000315936.4:n.77-386C>A
ENST00000353147.9:c.125C>A (HFE)	ENSP00000312342.5:p.Thr42Asn
ENST00000357618.9:c.665C>A (HFE)	ENSP00000417404.1:p.Thr222Asn
ENST00000397022.7:c.596C>A (HFE)	ENSP00000380217.3:p.Thr199Asn
ENST00000461397.5:c.623C>A (HFE)	ENSP00000420802.1:p.Thr208Asn
ENST00000470149.5:c.656C>A (HFE)	ENSP00000419725.1:p.Thr219Asn
ENST00000483782.1:n.996C>A (HFE)
ENST00000486147.1:n.508C>A (HFE)
ENST00000488199.5:c.359C>A (HFE)	ENSP00000420559.1:p.Thr120Asn
ENST00000629531.1:c.132+31040G>T (H2BC3)	ENSP00000486472.1:n.132+31040G>T
NM_000410.3:c.665C>A , LRG_748t1:c.665C>A (HFE)	NP_000401.1:p.Thr222Asn
NM_001300749.1:c.665C>A (HFE)	NP_001287678.1:p.Thr222Asn
NM_139003.2:c.347C>A (HFE)	NP_620572.1:p.Thr116Asn
NM_139004.2:c.389C>A (HFE)	NP_620573.1:p.Thr130Asn
NM_139006.2:c.623C>A (HFE)	NP_620575.1:p.Thr208Asn
NM_139007.2:c.401C>A (HFE)	NP_620576.1:p.Thr134Asn
NM_139008.2:c.359C>A (HFE)	NP_620577.1:p.Thr120Asn
NM_139009.2:c.596C>A (HFE)	NP_620578.1:p.Thr199Asn
NM_139010.2:c.125C>A (HFE)	NP_620579.1:p.Thr42Asn
NM_139011.2:c.77-386C>A (HFE)	NP_620580.1:n.77-386C>A
XM_011514543.1:c.665C>A (HFE)	XP_011512845.1:p.Thr222Asn
XM_011514544.1:c.656C>A (HFE)	XP_011512846.1:p.Thr219Asn
XR_241893.2:n.787C>A (HFE)
XM_011514543.3:c.665C>A (HFE)	XP_011512845.1:p.Thr222Asn
XR_241893.4:n.759C>A (HFE)
NM_001300749.2:c.665C>A (HFE)	NP_001287678.1:p.Thr222Asn
NM_139003.3:c.347C>A (HFE)	NP_620572.1:p.Thr116Asn
NM_139004.3:c.389C>A (HFE)	NP_620573.1:p.Thr130Asn
NM_139006.3:c.623C>A (HFE)	NP_620575.1:p.Thr208Asn
NM_139007.3:c.401C>A (HFE)	NP_620576.1:p.Thr134Asn
NM_139008.3:c.359C>A (HFE)	NP_620577.1:p.Thr120Asn
NM_139009.3:c.596C>A (HFE)	NP_620578.1:p.Thr199Asn
NM_139010.3:c.125C>A (HFE)	NP_620579.1:p.Thr42Asn
NM_139011.3:c.77-386C>A (HFE)	NP_620580.1:n.77-386C>A
NM_000410.4:c.665C>A (HFE) MANE Select	NP_000401.1:p.Thr222Asn
NM_001384164.1:c.665C>A (HFE)	NP_001371093.1:p.Thr222Asn