Canonical Allele Identifier: CA3666721

Gene: HFE H2BC4 H2BC3

Linked Data

• ClinVar Variation Id: 1127014
• ClinVar RCV Id: RCV001459273
• dbSNP Id: rs769080664
• ExAC: 6:26092995 G / A
• gnomAD v2: 6-26092995-G-A
• gnomAD v4: 6-26092767-G-A
• MyVariant Identifiers: chr6:g.26092995G>A (hg19) ; chr6:g.26092767G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092767G>A , CM000668.2:g.26092767G>A	GRCh38
NC_000006.11:g.26092995G>A , CM000668.1:g.26092995G>A	GRCh37
NC_000006.10:g.26200974G>A	NCBI36
NG_008720.2:g.10487G>A , LRG_748:g.10487G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.699G>A (HFE)	ENSP00000417534.2:p.Gln233=
ENST00000707188.1:c.391-1733C>T (H2BC4)	ENSP00000516775.1:n.391-1733C>T
ENST00000357618.10:c.699G>A (HFE) MANE Select	ENSP00000417404.1:p.Gln233=
ENST00000309234.10:c.699G>A (HFE)	ENSP00000311698.6:p.Gln233=
ENST00000317896.11:c.423G>A (HFE)	ENSP00000313776.7:p.Gln141=
ENST00000336625.12:c.381G>A (HFE)	ENSP00000337819.8:p.Gln127=
ENST00000349999.8:c.435G>A (HFE)	ENSP00000259699.6:p.Gln145=
ENST00000352392.8:c.77-352G>A (HFE)	ENSP00000315936.4:n.77-352G>A
ENST00000353147.9:c.159G>A (HFE)	ENSP00000312342.5:p.Gln53=
ENST00000357618.9:c.699G>A (HFE)	ENSP00000417404.1:p.Gln233=
ENST00000397022.7:c.630G>A (HFE)	ENSP00000380217.3:p.Gln210=
ENST00000461397.5:c.657G>A (HFE)	ENSP00000420802.1:p.Gln219=
ENST00000470149.5:c.690G>A (HFE)	ENSP00000419725.1:p.Gln230=
ENST00000483782.1:n.1030G>A (HFE)
ENST00000486147.1:n.542G>A (HFE)
ENST00000488199.5:c.393G>A (HFE)	ENSP00000420559.1:p.Gln131=
ENST00000629531.1:c.132+31006C>T (H2BC3)	ENSP00000486472.1:n.132+31006C>T
NM_000410.3:c.699G>A , LRG_748t1:c.699G>A (HFE)	NP_000401.1:p.Gln233=
NM_001300749.1:c.699G>A (HFE)	NP_001287678.1:p.Gln233=
NM_139003.2:c.381G>A (HFE)	NP_620572.1:p.Gln127=
NM_139004.2:c.423G>A (HFE)	NP_620573.1:p.Gln141=
NM_139006.2:c.657G>A (HFE)	NP_620575.1:p.Gln219=
NM_139007.2:c.435G>A (HFE)	NP_620576.1:p.Gln145=
NM_139008.2:c.393G>A (HFE)	NP_620577.1:p.Gln131=
NM_139009.2:c.630G>A (HFE)	NP_620578.1:p.Gln210=
NM_139010.2:c.159G>A (HFE)	NP_620579.1:p.Gln53=
NM_139011.2:c.77-352G>A (HFE)	NP_620580.1:n.77-352G>A
XM_011514543.1:c.699G>A (HFE)	XP_011512845.1:p.Gln233=
XM_011514544.1:c.690G>A (HFE)	XP_011512846.1:p.Gln230=
XR_241893.2:n.821G>A (HFE)
XM_011514543.3:c.699G>A (HFE)	XP_011512845.1:p.Gln233=
XR_241893.4:n.793G>A (HFE)
NM_001300749.2:c.699G>A (HFE)	NP_001287678.1:p.Gln233=
NM_139003.3:c.381G>A (HFE)	NP_620572.1:p.Gln127=
NM_139004.3:c.423G>A (HFE)	NP_620573.1:p.Gln141=
NM_139006.3:c.657G>A (HFE)	NP_620575.1:p.Gln219=
NM_139007.3:c.435G>A (HFE)	NP_620576.1:p.Gln145=
NM_139008.3:c.393G>A (HFE)	NP_620577.1:p.Gln131=
NM_139009.3:c.630G>A (HFE)	NP_620578.1:p.Gln210=
NM_139010.3:c.159G>A (HFE)	NP_620579.1:p.Gln53=
NM_139011.3:c.77-352G>A (HFE)	NP_620580.1:n.77-352G>A
NM_000410.4:c.699G>A (HFE) MANE Select	NP_000401.1:p.Gln233=
NM_001384164.1:c.699G>A (HFE)	NP_001371093.1:p.Gln233=