Canonical Allele Identifier: CA363208388

Gene: HFE H2BC4 H2BC3

Linked Data

• dbSNP Id: rs1762825816
• gnomAD v3: 6-26092886-C-G
• gnomAD v4: 6-26092886-C-G
• MyVariant Identifiers: chr6:g.26093114C>G (hg19) ; chr6:g.26092886C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092886C>G , CM000668.2:g.26092886C>G	GRCh38
NC_000006.11:g.26093114C>G , CM000668.1:g.26093114C>G	GRCh37
NC_000006.10:g.26201093C>G	NCBI36
NG_008720.2:g.10606C>G , LRG_748:g.10606C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.818C>G (HFE)	ENSP00000417534.2:p.Pro273Arg
ENST00000707188.1:c.391-1852G>C (H2BC4)	ENSP00000516775.1:n.391-1852G>C
ENST00000357618.10:c.818C>G (HFE) MANE Select	ENSP00000417404.1:p.Pro273Arg
ENST00000309234.10:c.818C>G (HFE)	ENSP00000311698.6:p.Pro273Arg
ENST00000317896.11:c.542C>G (HFE)	ENSP00000313776.7:p.Pro181Arg
ENST00000336625.12:c.500C>G (HFE)	ENSP00000337819.8:p.Pro167Arg
ENST00000349999.8:c.554C>G (HFE)	ENSP00000259699.6:p.Pro185Arg
ENST00000352392.8:c.77-233C>G (HFE)	ENSP00000315936.4:n.77-233C>G
ENST00000353147.9:c.278C>G (HFE)	ENSP00000312342.5:p.Pro93Arg
ENST00000357618.9:c.818C>G (HFE)	ENSP00000417404.1:p.Pro273Arg
ENST00000397022.7:c.749C>G (HFE)	ENSP00000380217.3:p.Pro250Arg
ENST00000461397.5:c.776C>G (HFE)	ENSP00000420802.1:p.Pro259Arg
ENST00000470149.5:c.809C>G (HFE)	ENSP00000419725.1:p.Pro270Arg
ENST00000483782.1:n.1149C>G (HFE)
ENST00000486147.1:n.661C>G (HFE)
ENST00000488199.5:c.512C>G (HFE)	ENSP00000420559.1:p.Pro171Arg
ENST00000629531.1:c.132+30887G>C (H2BC3)	ENSP00000486472.1:n.132+30887G>C
NM_000410.3:c.818C>G , LRG_748t1:c.818C>G (HFE)	NP_000401.1:p.Pro273Arg
NM_001300749.1:c.818C>G (HFE)	NP_001287678.1:p.Pro273Arg
NM_139003.2:c.500C>G (HFE)	NP_620572.1:p.Pro167Arg
NM_139004.2:c.542C>G (HFE)	NP_620573.1:p.Pro181Arg
NM_139006.2:c.776C>G (HFE)	NP_620575.1:p.Pro259Arg
NM_139007.2:c.554C>G (HFE)	NP_620576.1:p.Pro185Arg
NM_139008.2:c.512C>G (HFE)	NP_620577.1:p.Pro171Arg
NM_139009.2:c.749C>G (HFE)	NP_620578.1:p.Pro250Arg
NM_139010.2:c.278C>G (HFE)	NP_620579.1:p.Pro93Arg
NM_139011.2:c.77-233C>G (HFE)	NP_620580.1:n.77-233C>G
XM_011514543.1:c.818C>G (HFE)	XP_011512845.1:p.Pro273Arg
XM_011514544.1:c.809C>G (HFE)	XP_011512846.1:p.Pro270Arg
XR_241893.2:n.940C>G (HFE)
XM_011514543.3:c.818C>G (HFE)	XP_011512845.1:p.Pro273Arg
XR_241893.4:n.912C>G (HFE)
NM_001300749.2:c.818C>G (HFE)	NP_001287678.1:p.Pro273Arg
NM_139003.3:c.500C>G (HFE)	NP_620572.1:p.Pro167Arg
NM_139004.3:c.542C>G (HFE)	NP_620573.1:p.Pro181Arg
NM_139006.3:c.776C>G (HFE)	NP_620575.1:p.Pro259Arg
NM_139007.3:c.554C>G (HFE)	NP_620576.1:p.Pro185Arg
NM_139008.3:c.512C>G (HFE)	NP_620577.1:p.Pro171Arg
NM_139009.3:c.749C>G (HFE)	NP_620578.1:p.Pro250Arg
NM_139010.3:c.278C>G (HFE)	NP_620579.1:p.Pro93Arg
NM_139011.3:c.77-233C>G (HFE)	NP_620580.1:n.77-233C>G
NM_000410.4:c.818C>G (HFE) MANE Select	NP_000401.1:p.Pro273Arg
NM_001384164.1:c.818C>G (HFE)	NP_001371093.1:p.Pro273Arg