Canonical Allele Identifier: CA449420940

Gene: HFE H2BC4 H2BC3

Linked Data

• COSMIC: COSM3623449 ; COSM3623450
• MyVariant Identifiers: chr6:g.26092986C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092758C>T , CM000668.2:g.26092758C>T	GRCh38
NC_000006.11:g.26092986C>T , CM000668.1:g.26092986C>T	GRCh37
NC_000006.10:g.26200965C>T	NCBI36
NG_008720.2:g.10478C>T , LRG_748:g.10478C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.690C>T (HFE)	ENSP00000417534.2:p.Tyr230=
ENST00000707188.1:c.391-1724G>A (H2BC4)	ENSP00000516775.1:n.391-1724G>A
ENST00000357618.10:c.690C>T (HFE) MANE Select	ENSP00000417404.1:p.Tyr230=
ENST00000309234.10:c.690C>T (HFE)	ENSP00000311698.6:p.Tyr230=
ENST00000317896.11:c.414C>T (HFE)	ENSP00000313776.7:p.Tyr138=
ENST00000336625.12:c.372C>T (HFE)	ENSP00000337819.8:p.Tyr124=
ENST00000349999.8:c.426C>T (HFE)	ENSP00000259699.6:p.Tyr142=
ENST00000352392.8:c.77-361C>T (HFE)	ENSP00000315936.4:n.77-361C>T
ENST00000353147.9:c.150C>T (HFE)	ENSP00000312342.5:p.Tyr50=
ENST00000357618.9:c.690C>T (HFE)	ENSP00000417404.1:p.Tyr230=
ENST00000397022.7:c.621C>T (HFE)	ENSP00000380217.3:p.Tyr207=
ENST00000461397.5:c.648C>T (HFE)	ENSP00000420802.1:p.Tyr216=
ENST00000470149.5:c.681C>T (HFE)	ENSP00000419725.1:p.Tyr227=
ENST00000483782.1:n.1021C>T (HFE)
ENST00000486147.1:n.533C>T (HFE)
ENST00000488199.5:c.384C>T (HFE)	ENSP00000420559.1:p.Tyr128=
ENST00000629531.1:c.132+31015G>A (H2BC3)	ENSP00000486472.1:n.132+31015G>A
NM_000410.3:c.690C>T , LRG_748t1:c.690C>T (HFE)	NP_000401.1:p.Tyr230=
NM_001300749.1:c.690C>T (HFE)	NP_001287678.1:p.Tyr230=
NM_139003.2:c.372C>T (HFE)	NP_620572.1:p.Tyr124=
NM_139004.2:c.414C>T (HFE)	NP_620573.1:p.Tyr138=
NM_139006.2:c.648C>T (HFE)	NP_620575.1:p.Tyr216=
NM_139007.2:c.426C>T (HFE)	NP_620576.1:p.Tyr142=
NM_139008.2:c.384C>T (HFE)	NP_620577.1:p.Tyr128=
NM_139009.2:c.621C>T (HFE)	NP_620578.1:p.Tyr207=
NM_139010.2:c.150C>T (HFE)	NP_620579.1:p.Tyr50=
NM_139011.2:c.77-361C>T (HFE)	NP_620580.1:n.77-361C>T
XM_011514543.1:c.690C>T (HFE)	XP_011512845.1:p.Tyr230=
XM_011514544.1:c.681C>T (HFE)	XP_011512846.1:p.Tyr227=
XR_241893.2:n.812C>T (HFE)
XM_011514543.3:c.690C>T (HFE)	XP_011512845.1:p.Tyr230=
XR_241893.4:n.784C>T (HFE)
NM_001300749.2:c.690C>T (HFE)	NP_001287678.1:p.Tyr230=
NM_139003.3:c.372C>T (HFE)	NP_620572.1:p.Tyr124=
NM_139004.3:c.414C>T (HFE)	NP_620573.1:p.Tyr138=
NM_139006.3:c.648C>T (HFE)	NP_620575.1:p.Tyr216=
NM_139007.3:c.426C>T (HFE)	NP_620576.1:p.Tyr142=
NM_139008.3:c.384C>T (HFE)	NP_620577.1:p.Tyr128=
NM_139009.3:c.621C>T (HFE)	NP_620578.1:p.Tyr207=
NM_139010.3:c.150C>T (HFE)	NP_620579.1:p.Tyr50=
NM_139011.3:c.77-361C>T (HFE)	NP_620580.1:n.77-361C>T
NM_000410.4:c.690C>T (HFE) MANE Select	NP_000401.1:p.Tyr230=
NM_001384164.1:c.690C>T (HFE)	NP_001371093.1:p.Tyr230=