Canonical Allele Identifier: CA3666532
Community Standard Title: NC_000006.12:g.26087393C>G
Gene: H2BC4 HGNC NCBI
HFE HGNC NCBI
H2BC3 HGNC NCBI
HFE-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.26087393C>G , CM000668.2:g.26087393C>G GRCh38
NC_000006.11:g.26087621C>G , CM000668.1:g.26087621C>G GRCh37
NC_000006.10:g.26195600C>G NCBI36
NG_008720.2:g.5113C>G , LRG_748:g.5113C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000410.3:c.-48C>G , LRG_748t1:c.-48C>G (HFE) NP_000401.1:n.-48C>G
NM_001300749.1:c.-48C>G (HFE) NP_001287678.1:n.-48C>G
NM_139003.2:c.-48C>G (HFE) NP_620572.1:n.-48C>G
NM_139004.2:c.-48C>G (HFE) NP_620573.1:n.-48C>G
NM_139006.2:c.-48C>G (HFE) NP_620575.1:n.-48C>G
NM_139007.2:c.-48C>G (HFE) NP_620576.1:n.-48C>G
NM_139008.2:c.-48C>G (HFE) NP_620577.1:n.-48C>G
NM_139009.2:c.-48C>G (HFE) NP_620578.1:n.-48C>G
NM_139010.2:c.-48C>G (HFE) NP_620579.1:n.-48C>G
NM_139011.2:c.-48C>G (HFE) NP_620580.1:n.-48C>G
NR_144383.1:n.1082G>C (HFE-AS1)
ENST00000317896.11:c.-48C>G (HFE) ENSP00000313776.7:n.-48C>G
ENST00000349999.8:c.-48C>G (HFE) ENSP00000259699.6:n.-48C>G
ENST00000352392.8:c.-48C>G (HFE) ENSP00000315936.4:n.-48C>G
ENST00000353147.9:c.-48C>G (HFE) ENSP00000312342.5:n.-48C>G
ENST00000357618.9:c.-48C>G (HFE) ENSP00000417404.1:n.-48C>G
ENST00000397022.7:c.-48C>G (HFE) ENSP00000380217.3:n.-48C>G
ENST00000470149.5:c.-48C>G (HFE) ENSP00000419725.1:n.-48C>G
ENST00000483782.1:n.75C>G (HFE)
ENST00000629531.1:c.132+36380G>C (H2BC3) ENSP00000486472.1:n.132+36380G>C
ENST00000707188.1:c.1472G>C (H2BC4) ENSP00000516775.1:n.1472G>C
XM_011514543.1:c.-48C>G (HFE) XP_011512845.1:n.-48C>G
XM_011514543.3:c.-48C>G (HFE) XP_011512845.1:n.-48C>G
XM_011514544.1:c.-48C>G (HFE) XP_011512846.1:n.-48C>G
XR_241893.2:n.75C>G (HFE)
XR_241893.4:n.47C>G (HFE)
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