Canonical Allele Identifier: CA1616887454

Gene: H2BC4 HFE H2BC3 HFE-AS1

Linked Data

• dbSNP Id: rs1762339172
• gnomAD v4: 6-26087363-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26087363C>T , CM000668.2:g.26087363C>T	GRCh38
NC_000006.11:g.26087591C>T , CM000668.1:g.26087591C>T	GRCh37
NC_000006.10:g.26195570C>T	NCBI36
NG_008720.2:g.5083C>T , LRG_748:g.5083C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707188.1:c.1502G>A (H2BC4)	ENSP00000516775.1:n.1502G>A
ENST00000317896.11:c.-78C>T (HFE)	ENSP00000313776.7:n.-78C>T
ENST00000349999.8:c.-78C>T (HFE)	ENSP00000259699.6:n.-78C>T
ENST00000352392.8:c.-78C>T (HFE)	ENSP00000315936.4:n.-78C>T
ENST00000353147.9:c.-78C>T (HFE)	ENSP00000312342.5:n.-78C>T
ENST00000357618.9:c.-78C>T (HFE)	ENSP00000417404.1:n.-78C>T
ENST00000397022.7:c.-78C>T (HFE)	ENSP00000380217.3:n.-78C>T
ENST00000483782.1:n.45C>T (HFE)
ENST00000629531.1:c.132+36410G>A (H2BC3)	ENSP00000486472.1:n.132+36410G>A
NM_000410.3:c.-78C>T , LRG_748t1:c.-78C>T (HFE)	NP_000401.1:n.-78C>T
NM_001300749.1:c.-78C>T (HFE)	NP_001287678.1:n.-78C>T
NM_139003.2:c.-78C>T (HFE)	NP_620572.1:n.-78C>T
NM_139004.2:c.-78C>T (HFE)	NP_620573.1:n.-78C>T
NM_139006.2:c.-78C>T (HFE)	NP_620575.1:n.-78C>T
NM_139007.2:c.-78C>T (HFE)	NP_620576.1:n.-78C>T
NM_139008.2:c.-78C>T (HFE)	NP_620577.1:n.-78C>T
NM_139009.2:c.-78C>T (HFE)	NP_620578.1:n.-78C>T
NM_139010.2:c.-78C>T (HFE)	NP_620579.1:n.-78C>T
NM_139011.2:c.-78C>T (HFE)	NP_620580.1:n.-78C>T
XM_011514543.1:c.-78C>T (HFE)	XP_011512845.1:n.-78C>T
XM_011514544.1:c.-78C>T (HFE)	XP_011512846.1:n.-78C>T
XR_241893.2:n.45C>T (HFE)
NR_144383.1:n.1112G>A (HFE-AS1)
XM_011514543.3:c.-78C>T (HFE)	XP_011512845.1:n.-78C>T
XR_241893.4:n.17C>T (HFE)