Canonical Allele Identifier: CA3666835

Gene: HFE H2BC4 H2BC3

Linked Data

• ClinVar Variation Id: 356197
• ClinVar RCV Id: RCV000360021
• dbSNP Id: rs192228238
• ExAC: 6:26094609 C / T
• gnomAD v2: 6-26094609-C-T
• gnomAD v3: 6-26094381-C-T
• gnomAD v4: 6-26094381-C-T
• MyVariant Identifiers: chr6:g.26094609C>T (hg19) ; chr6:g.26094381C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26094381C>T , CM000668.2:g.26094381C>T	GRCh38
NC_000006.11:g.26094609C>T , CM000668.1:g.26094609C>T	GRCh37
NC_000006.10:g.26202588C>T	NCBI36
NG_008720.2:g.12101C>T , LRG_748:g.12101C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000485729.2:c.1040-23C>T (HFE)	ENSP00000417534.2:n.1040-23C>T
ENST00000707188.1:c.391-3347G>A (H2BC4)	ENSP00000516775.1:n.391-3347G>A
ENST00000357618.10:c.*155C>T (HFE) MANE Select	ENSP00000417404.1:n.*155C>T
ENST00000309234.10:c.1007-23C>T (HFE)	ENSP00000311698.6:n.1007-23C>T
ENST00000317896.11:c.*155C>T (HFE)	ENSP00000313776.7:n.*155C>T
ENST00000349999.8:c.*155C>T (HFE)	ENSP00000259699.6:n.*155C>T
ENST00000352392.8:c.*155C>T (HFE)	ENSP00000315936.4:n.*155C>T
ENST00000357618.9:c.*155C>T (HFE)	ENSP00000417404.1:n.*155C>T
ENST00000485729.1:c.161-23C>T (HFE)	ENSP00000417534.1:n.161-23C>T
ENST00000629531.1:c.132+29392G>A (H2BC3)	ENSP00000486472.1:n.132+29392G>A
NM_000410.3:c.*155C>T , LRG_748t1:c.*155C>T (HFE)	NP_000401.1:n.*155C>T
NM_001300749.1:c.1007-23C>T (HFE)	NP_001287678.1:n.1007-23C>T
NM_139003.2:c.*155C>T (HFE)	NP_620572.1:n.*155C>T
NM_139004.2:c.*155C>T (HFE)	NP_620573.1:n.*155C>T
NM_139006.2:c.*155C>T (HFE)	NP_620575.1:n.*155C>T
NM_139007.2:c.*155C>T (HFE)	NP_620576.1:n.*155C>T
NM_139008.2:c.*155C>T (HFE)	NP_620577.1:n.*155C>T
NM_139009.2:c.*155C>T (HFE)	NP_620578.1:n.*155C>T
NM_139010.2:c.*155C>T (HFE)	NP_620579.1:n.*155C>T
NM_139011.2:c.*155C>T (HFE)	NP_620580.1:n.*155C>T
XM_011514543.1:c.1040-23C>T (HFE)	XP_011512845.1:n.1040-23C>T
XM_011514544.1:c.*155C>T (HFE)	XP_011512846.1:n.*155C>T
XM_011514543.3:c.1040-23C>T (HFE)	XP_011512845.1:n.1040-23C>T
NM_001300749.2:c.1007-23C>T (HFE)	NP_001287678.1:n.1007-23C>T
NM_139003.3:c.*155C>T (HFE)	NP_620572.1:n.*155C>T
NM_139004.3:c.*155C>T (HFE)	NP_620573.1:n.*155C>T
NM_139006.3:c.*155C>T (HFE)	NP_620575.1:n.*155C>T
NM_139007.3:c.*155C>T (HFE)	NP_620576.1:n.*155C>T
NM_139008.3:c.*155C>T (HFE)	NP_620577.1:n.*155C>T
NM_139009.3:c.*155C>T (HFE)	NP_620578.1:n.*155C>T
NM_139010.3:c.*155C>T (HFE)	NP_620579.1:n.*155C>T
NM_139011.3:c.*155C>T (HFE)	NP_620580.1:n.*155C>T
NM_000410.4:c.*155C>T (HFE) MANE Select	NP_000401.1:n.*155C>T
NM_001384164.1:c.1040-23C>T (HFE)	NP_001371093.1:n.1040-23C>T