Canonical Allele Identifier: CA363207645

Gene: HFE H2BC4 H2BC3

Linked Data

• COSMIC: COSM3860894
• MyVariant Identifiers: chr6:g.26092943T>C (hg19) ; chr6:g.26092715T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092715T>C , CM000668.2:g.26092715T>C	GRCh38
NC_000006.11:g.26092943T>C , CM000668.1:g.26092943T>C	GRCh37
NC_000006.10:g.26200922T>C	NCBI36
NG_008720.2:g.10435T>C , LRG_748:g.10435T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.647T>C (HFE)	ENSP00000417534.2:p.Val216Ala
ENST00000707188.1:c.391-1681A>G (H2BC4)	ENSP00000516775.1:n.391-1681A>G
ENST00000357618.10:c.647T>C (HFE) MANE Select	ENSP00000417404.1:p.Val216Ala
ENST00000309234.10:c.647T>C (HFE)	ENSP00000311698.6:p.Val216Ala
ENST00000317896.11:c.371T>C (HFE)	ENSP00000313776.7:p.Val124Ala
ENST00000336625.12:c.341-12T>C (HFE)	ENSP00000337819.8:n.341-12T>C
ENST00000349999.8:c.383T>C (HFE)	ENSP00000259699.6:p.Val128Ala
ENST00000352392.8:c.77-404T>C (HFE)	ENSP00000315936.4:n.77-404T>C
ENST00000353147.9:c.107T>C (HFE)	ENSP00000312342.5:p.Val36Ala
ENST00000357618.9:c.647T>C (HFE)	ENSP00000417404.1:p.Val216Ala
ENST00000397022.7:c.578T>C (HFE)	ENSP00000380217.3:p.Val193Ala
ENST00000461397.5:c.617-12T>C (HFE)	ENSP00000420802.1:n.617-12T>C
ENST00000470149.5:c.650-12T>C (HFE)	ENSP00000419725.1:n.650-12T>C
ENST00000483782.1:n.978T>C (HFE)
ENST00000486147.1:n.490T>C (HFE)
ENST00000488199.5:c.353-12T>C (HFE)	ENSP00000420559.1:n.353-12T>C
ENST00000629531.1:c.132+31058A>G (H2BC3)	ENSP00000486472.1:n.132+31058A>G
NM_000410.3:c.647T>C , LRG_748t1:c.647T>C (HFE)	NP_000401.1:p.Val216Ala
NM_001300749.1:c.647T>C (HFE)	NP_001287678.1:p.Val216Ala
NM_139003.2:c.341-12T>C (HFE)	NP_620572.1:n.341-12T>C
NM_139004.2:c.371T>C (HFE)	NP_620573.1:p.Val124Ala
NM_139006.2:c.617-12T>C (HFE)	NP_620575.1:n.617-12T>C
NM_139007.2:c.383T>C (HFE)	NP_620576.1:p.Val128Ala
NM_139008.2:c.353-12T>C (HFE)	NP_620577.1:n.353-12T>C
NM_139009.2:c.578T>C (HFE)	NP_620578.1:p.Val193Ala
NM_139010.2:c.107T>C (HFE)	NP_620579.1:p.Val36Ala
NM_139011.2:c.77-404T>C (HFE)	NP_620580.1:n.77-404T>C
XM_011514543.1:c.647T>C (HFE)	XP_011512845.1:p.Val216Ala
XM_011514544.1:c.650-12T>C (HFE)	XP_011512846.1:n.650-12T>C
XR_241893.2:n.769T>C (HFE)
XM_011514543.3:c.647T>C (HFE)	XP_011512845.1:p.Val216Ala
XR_241893.4:n.741T>C (HFE)
NM_001300749.2:c.647T>C (HFE)	NP_001287678.1:p.Val216Ala
NM_139003.3:c.341-12T>C (HFE)	NP_620572.1:n.341-12T>C
NM_139004.3:c.371T>C (HFE)	NP_620573.1:p.Val124Ala
NM_139006.3:c.617-12T>C (HFE)	NP_620575.1:n.617-12T>C
NM_139007.3:c.383T>C (HFE)	NP_620576.1:p.Val128Ala
NM_139008.3:c.353-12T>C (HFE)	NP_620577.1:n.353-12T>C
NM_139009.3:c.578T>C (HFE)	NP_620578.1:p.Val193Ala
NM_139010.3:c.107T>C (HFE)	NP_620579.1:p.Val36Ala
NM_139011.3:c.77-404T>C (HFE)	NP_620580.1:n.77-404T>C
NM_000410.4:c.647T>C (HFE) MANE Select	NP_000401.1:p.Val216Ala
NM_001384164.1:c.647T>C (HFE)	NP_001371093.1:p.Val216Ala