Canonical Allele Identifier: CA363207967

Gene: HFE H2BC4 H2BC3

Linked Data

• dbSNP Id: rs1482029594
• gnomAD v2: 6-26093025-G-C
• MyVariant Identifiers: chr6:g.26093025G>C (hg19) ; chr6:g.26092797G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092797G>C , CM000668.2:g.26092797G>C	GRCh38
NC_000006.11:g.26093025G>C , CM000668.1:g.26093025G>C	GRCh37
NC_000006.10:g.26201004G>C	NCBI36
NG_008720.2:g.10517G>C , LRG_748:g.10517G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.729G>C (HFE)	ENSP00000417534.2:p.Lys243Asn
ENST00000707188.1:c.391-1763C>G (H2BC4)	ENSP00000516775.1:n.391-1763C>G
ENST00000357618.10:c.729G>C (HFE) MANE Select	ENSP00000417404.1:p.Lys243Asn
ENST00000309234.10:c.729G>C (HFE)	ENSP00000311698.6:p.Lys243Asn
ENST00000317896.11:c.453G>C (HFE)	ENSP00000313776.7:p.Lys151Asn
ENST00000336625.12:c.411G>C (HFE)	ENSP00000337819.8:p.Lys137Asn
ENST00000349999.8:c.465G>C (HFE)	ENSP00000259699.6:p.Lys155Asn
ENST00000352392.8:c.77-322G>C (HFE)	ENSP00000315936.4:n.77-322G>C
ENST00000353147.9:c.189G>C (HFE)	ENSP00000312342.5:p.Lys63Asn
ENST00000357618.9:c.729G>C (HFE)	ENSP00000417404.1:p.Lys243Asn
ENST00000397022.7:c.660G>C (HFE)	ENSP00000380217.3:p.Lys220Asn
ENST00000461397.5:c.687G>C (HFE)	ENSP00000420802.1:p.Lys229Asn
ENST00000470149.5:c.720G>C (HFE)	ENSP00000419725.1:p.Lys240Asn
ENST00000483782.1:n.1060G>C (HFE)
ENST00000486147.1:n.572G>C (HFE)
ENST00000488199.5:c.423G>C (HFE)	ENSP00000420559.1:p.Lys141Asn
ENST00000629531.1:c.132+30976C>G (H2BC3)	ENSP00000486472.1:n.132+30976C>G
NM_000410.3:c.729G>C , LRG_748t1:c.729G>C (HFE)	NP_000401.1:p.Lys243Asn
NM_001300749.1:c.729G>C (HFE)	NP_001287678.1:p.Lys243Asn
NM_139003.2:c.411G>C (HFE)	NP_620572.1:p.Lys137Asn
NM_139004.2:c.453G>C (HFE)	NP_620573.1:p.Lys151Asn
NM_139006.2:c.687G>C (HFE)	NP_620575.1:p.Lys229Asn
NM_139007.2:c.465G>C (HFE)	NP_620576.1:p.Lys155Asn
NM_139008.2:c.423G>C (HFE)	NP_620577.1:p.Lys141Asn
NM_139009.2:c.660G>C (HFE)	NP_620578.1:p.Lys220Asn
NM_139010.2:c.189G>C (HFE)	NP_620579.1:p.Lys63Asn
NM_139011.2:c.77-322G>C (HFE)	NP_620580.1:n.77-322G>C
XM_011514543.1:c.729G>C (HFE)	XP_011512845.1:p.Lys243Asn
XM_011514544.1:c.720G>C (HFE)	XP_011512846.1:p.Lys240Asn
XR_241893.2:n.851G>C (HFE)
XM_011514543.3:c.729G>C (HFE)	XP_011512845.1:p.Lys243Asn
XR_241893.4:n.823G>C (HFE)
NM_001300749.2:c.729G>C (HFE)	NP_001287678.1:p.Lys243Asn
NM_139003.3:c.411G>C (HFE)	NP_620572.1:p.Lys137Asn
NM_139004.3:c.453G>C (HFE)	NP_620573.1:p.Lys151Asn
NM_139006.3:c.687G>C (HFE)	NP_620575.1:p.Lys229Asn
NM_139007.3:c.465G>C (HFE)	NP_620576.1:p.Lys155Asn
NM_139008.3:c.423G>C (HFE)	NP_620577.1:p.Lys141Asn
NM_139009.3:c.660G>C (HFE)	NP_620578.1:p.Lys220Asn
NM_139010.3:c.189G>C (HFE)	NP_620579.1:p.Lys63Asn
NM_139011.3:c.77-322G>C (HFE)	NP_620580.1:n.77-322G>C
NM_000410.4:c.729G>C (HFE) MANE Select	NP_000401.1:p.Lys243Asn
NM_001384164.1:c.729G>C (HFE)	NP_001371093.1:p.Lys243Asn