Canonical Allele Identifier: CA3666840

Gene: HFE H2BC4 H2BC3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26094425G>A , CM000668.2:g.26094425G>A	GRCh38
NC_000006.11:g.26094653G>A , CM000668.1:g.26094653G>A	GRCh37
NC_000006.10:g.26202632G>A	NCBI36
NG_008720.2:g.12145G>A , LRG_748:g.12145G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000410.4:c.*199G>A (HFE) MANE Select	NP_000401.1:n.*199G>A
ENST00000357618.10:c.*199G>A (HFE) MANE Select	ENSP00000417404.1:n.*199G>A
NM_000410.3:c.*199G>A , LRG_748t1:c.*199G>A (HFE)	NP_000401.1:n.*199G>A
NM_001300749.1:c.*14G>A (HFE)	NP_001287678.1:n.*14G>A
NM_001300749.2:c.*14G>A (HFE)	NP_001287678.1:n.*14G>A
NM_001384164.1:c.*14G>A (HFE)	NP_001371093.1:n.*14G>A
NM_139003.2:c.*199G>A (HFE)	NP_620572.1:n.*199G>A
NM_139003.3:c.*199G>A (HFE)	NP_620572.1:n.*199G>A
NM_139004.2:c.*199G>A (HFE)	NP_620573.1:n.*199G>A
NM_139004.3:c.*199G>A (HFE)	NP_620573.1:n.*199G>A
NM_139006.2:c.*199G>A (HFE)	NP_620575.1:n.*199G>A
NM_139006.3:c.*199G>A (HFE)	NP_620575.1:n.*199G>A
NM_139007.2:c.*199G>A (HFE)	NP_620576.1:n.*199G>A
NM_139007.3:c.*199G>A (HFE)	NP_620576.1:n.*199G>A
NM_139008.2:c.*199G>A (HFE)	NP_620577.1:n.*199G>A
NM_139008.3:c.*199G>A (HFE)	NP_620577.1:n.*199G>A
NM_139009.2:c.*199G>A (HFE)	NP_620578.1:n.*199G>A
NM_139009.3:c.*199G>A (HFE)	NP_620578.1:n.*199G>A
NM_139010.2:c.*199G>A (HFE)	NP_620579.1:n.*199G>A
NM_139010.3:c.*199G>A (HFE)	NP_620579.1:n.*199G>A
NM_139011.2:c.*199G>A (HFE)	NP_620580.1:n.*199G>A
NM_139011.3:c.*199G>A (HFE)	NP_620580.1:n.*199G>A
ENST00000309234.10:c.*14G>A (HFE)	ENSP00000311698.6:n.*14G>A
ENST00000317896.11:c.*199G>A (HFE)	ENSP00000313776.7:n.*199G>A
ENST00000349999.8:c.*199G>A (HFE)	ENSP00000259699.6:n.*199G>A
ENST00000352392.8:c.*199G>A (HFE)	ENSP00000315936.4:n.*199G>A
ENST00000357618.9:c.*199G>A (HFE)	ENSP00000417404.1:n.*199G>A
ENST00000485729.1:c.182G>A (HFE)	ENSP00000417534.1:n.182G>A
ENST00000485729.2:c.*14G>A (HFE)	ENSP00000417534.2:n.*14G>A
ENST00000629531.1:c.132+29348C>T (H2BC3)	ENSP00000486472.1:n.132+29348C>T
ENST00000707188.1:c.391-3391C>T (H2BC4)	ENSP00000516775.1:n.391-3391C>T
XM_011514543.1:c.*14G>A (HFE)	XP_011512845.1:n.*14G>A
XM_011514543.3:c.*14G>A (HFE)	XP_011512845.1:n.*14G>A
XM_011514544.1:c.*199G>A (HFE)	XP_011512846.1:n.*199G>A