Canonical Allele Identifier: CA2578549050

Gene: H2BC4 HFE H2BC3 HFE-AS1

Linked Data

• gnomAD v4: 6-26087384-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26087384C>A , CM000668.2:g.26087384C>A	GRCh38
NC_000006.11:g.26087612C>A , CM000668.1:g.26087612C>A	GRCh37
NC_000006.10:g.26195591C>A	NCBI36
NG_008720.2:g.5104C>A , LRG_748:g.5104C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000707188.1:c.1481G>T (H2BC4)	ENSP00000516775.1:n.1481G>T
ENST00000317896.11:c.-57C>A (HFE)	ENSP00000313776.7:n.-57C>A
ENST00000349999.8:c.-57C>A (HFE)	ENSP00000259699.6:n.-57C>A
ENST00000352392.8:c.-57C>A (HFE)	ENSP00000315936.4:n.-57C>A
ENST00000353147.9:c.-57C>A (HFE)	ENSP00000312342.5:n.-57C>A
ENST00000357618.9:c.-57C>A (HFE)	ENSP00000417404.1:n.-57C>A
ENST00000397022.7:c.-57C>A (HFE)	ENSP00000380217.3:n.-57C>A
ENST00000483782.1:n.66C>A (HFE)
ENST00000629531.1:c.132+36389G>T (H2BC3)	ENSP00000486472.1:n.132+36389G>T
NM_000410.3:c.-57C>A , LRG_748t1:c.-57C>A (HFE)	NP_000401.1:n.-57C>A
NM_001300749.1:c.-57C>A (HFE)	NP_001287678.1:n.-57C>A
NM_139003.2:c.-57C>A (HFE)	NP_620572.1:n.-57C>A
NM_139004.2:c.-57C>A (HFE)	NP_620573.1:n.-57C>A
NM_139006.2:c.-57C>A (HFE)	NP_620575.1:n.-57C>A
NM_139007.2:c.-57C>A (HFE)	NP_620576.1:n.-57C>A
NM_139008.2:c.-57C>A (HFE)	NP_620577.1:n.-57C>A
NM_139009.2:c.-57C>A (HFE)	NP_620578.1:n.-57C>A
NM_139010.2:c.-57C>A (HFE)	NP_620579.1:n.-57C>A
NM_139011.2:c.-57C>A (HFE)	NP_620580.1:n.-57C>A
XM_011514543.1:c.-57C>A (HFE)	XP_011512845.1:n.-57C>A
XM_011514544.1:c.-57C>A (HFE)	XP_011512846.1:n.-57C>A
XR_241893.2:n.66C>A (HFE)
NR_144383.1:n.1091G>T (HFE-AS1)
XM_011514543.3:c.-57C>A (HFE)	XP_011512845.1:n.-57C>A
XR_241893.4:n.38C>A (HFE)