Canonical Allele Identifier: CA363208751

Gene: HFE H2BC4 H2BC3

Linked Data

• gnomAD v4: 6-26092943-C-T
• MyVariant Identifiers: chr6:g.26093171C>T (hg19) ; chr6:g.26092943C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092943C>T , CM000668.2:g.26092943C>T	GRCh38
NC_000006.11:g.26093171C>T , CM000668.1:g.26093171C>T	GRCh37
NC_000006.10:g.26201150C>T	NCBI36
NG_008720.2:g.10663C>T , LRG_748:g.10663C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.875C>T (HFE)	ENSP00000417534.2:p.Pro292Leu
ENST00000707188.1:c.391-1909G>A (H2BC4)	ENSP00000516775.1:n.391-1909G>A
ENST00000357618.10:c.875C>T (HFE) MANE Select	ENSP00000417404.1:p.Pro292Leu
ENST00000309234.10:c.875C>T (HFE)	ENSP00000311698.6:p.Pro292Leu
ENST00000317896.11:c.599C>T (HFE)	ENSP00000313776.7:p.Pro200Leu
ENST00000336625.12:c.557C>T (HFE)	ENSP00000337819.8:p.Pro186Leu
ENST00000349999.8:c.611C>T (HFE)	ENSP00000259699.6:p.Pro204Leu
ENST00000352392.8:c.77-176C>T (HFE)	ENSP00000315936.4:n.77-176C>T
ENST00000353147.9:c.335C>T (HFE)	ENSP00000312342.5:p.Pro112Leu
ENST00000357618.9:c.875C>T (HFE)	ENSP00000417404.1:p.Pro292Leu
ENST00000397022.7:c.806C>T (HFE)	ENSP00000380217.3:p.Pro269Leu
ENST00000461397.5:c.833C>T (HFE)	ENSP00000420802.1:p.Pro278Leu
ENST00000470149.5:c.866C>T (HFE)	ENSP00000419725.1:p.Pro289Leu
ENST00000483782.1:n.1206C>T (HFE)
ENST00000486147.1:n.718C>T (HFE)
ENST00000488199.5:c.569C>T (HFE)	ENSP00000420559.1:p.Pro190Leu
ENST00000629531.1:c.132+30830G>A (H2BC3)	ENSP00000486472.1:n.132+30830G>A
NM_000410.3:c.875C>T , LRG_748t1:c.875C>T (HFE)	NP_000401.1:p.Pro292Leu
NM_001300749.1:c.875C>T (HFE)	NP_001287678.1:p.Pro292Leu
NM_139003.2:c.557C>T (HFE)	NP_620572.1:p.Pro186Leu
NM_139004.2:c.599C>T (HFE)	NP_620573.1:p.Pro200Leu
NM_139006.2:c.833C>T (HFE)	NP_620575.1:p.Pro278Leu
NM_139007.2:c.611C>T (HFE)	NP_620576.1:p.Pro204Leu
NM_139008.2:c.569C>T (HFE)	NP_620577.1:p.Pro190Leu
NM_139009.2:c.806C>T (HFE)	NP_620578.1:p.Pro269Leu
NM_139010.2:c.335C>T (HFE)	NP_620579.1:p.Pro112Leu
NM_139011.2:c.77-176C>T (HFE)	NP_620580.1:n.77-176C>T
XM_011514543.1:c.875C>T (HFE)	XP_011512845.1:p.Pro292Leu
XM_011514544.1:c.866C>T (HFE)	XP_011512846.1:p.Pro289Leu
XR_241893.2:n.997C>T (HFE)
XM_011514543.3:c.875C>T (HFE)	XP_011512845.1:p.Pro292Leu
XR_241893.4:n.969C>T (HFE)
NM_001300749.2:c.875C>T (HFE)	NP_001287678.1:p.Pro292Leu
NM_139003.3:c.557C>T (HFE)	NP_620572.1:p.Pro186Leu
NM_139004.3:c.599C>T (HFE)	NP_620573.1:p.Pro200Leu
NM_139006.3:c.833C>T (HFE)	NP_620575.1:p.Pro278Leu
NM_139007.3:c.611C>T (HFE)	NP_620576.1:p.Pro204Leu
NM_139008.3:c.569C>T (HFE)	NP_620577.1:p.Pro190Leu
NM_139009.3:c.806C>T (HFE)	NP_620578.1:p.Pro269Leu
NM_139010.3:c.335C>T (HFE)	NP_620579.1:p.Pro112Leu
NM_139011.3:c.77-176C>T (HFE)	NP_620580.1:n.77-176C>T
NM_000410.4:c.875C>T (HFE) MANE Select	NP_000401.1:p.Pro292Leu
NM_001384164.1:c.875C>T (HFE)	NP_001371093.1:p.Pro292Leu