Canonical Allele Identifier: CA363208818

Gene: HFE H2BC4 H2BC3

Linked Data

• ClinVar Variation Id: 2539469
• ClinVar RCV Id: RCV003292086
• dbSNP Id: rs1318067141
• gnomAD v2: 6-26093183-T-C
• gnomAD v4: 6-26092955-T-C
• MyVariant Identifiers: chr6:g.26093183T>C (hg19) ; chr6:g.26092955T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092955T>C , CM000668.2:g.26092955T>C	GRCh38
NC_000006.11:g.26093183T>C , CM000668.1:g.26093183T>C	GRCh37
NC_000006.10:g.26201162T>C	NCBI36
NG_008720.2:g.10675T>C , LRG_748:g.10675T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.887T>C (HFE)	ENSP00000417534.2:p.Ile296Thr
ENST00000707188.1:c.391-1921A>G (H2BC4)	ENSP00000516775.1:n.391-1921A>G
ENST00000357618.10:c.887T>C (HFE) MANE Select	ENSP00000417404.1:p.Ile296Thr
ENST00000309234.10:c.887T>C (HFE)	ENSP00000311698.6:p.Ile296Thr
ENST00000317896.11:c.611T>C (HFE)	ENSP00000313776.7:p.Ile204Thr
ENST00000336625.12:c.569T>C (HFE)	ENSP00000337819.8:p.Ile190Thr
ENST00000349999.8:c.623T>C (HFE)	ENSP00000259699.6:p.Ile208Thr
ENST00000352392.8:c.77-164T>C (HFE)	ENSP00000315936.4:n.77-164T>C
ENST00000353147.9:c.347T>C (HFE)	ENSP00000312342.5:p.Ile116Thr
ENST00000357618.9:c.887T>C (HFE)	ENSP00000417404.1:p.Ile296Thr
ENST00000397022.7:c.818T>C (HFE)	ENSP00000380217.3:p.Ile273Thr
ENST00000461397.5:c.845T>C (HFE)	ENSP00000420802.1:p.Ile282Thr
ENST00000470149.5:c.878T>C (HFE)	ENSP00000419725.1:p.Ile293Thr
ENST00000483782.1:n.1218T>C (HFE)
ENST00000485729.1:c.8T>C (HFE)	ENSP00000417534.1:p.Ile3Thr
ENST00000486147.1:n.730T>C (HFE)
ENST00000488199.5:c.581T>C (HFE)	ENSP00000420559.1:p.Ile194Thr
ENST00000629531.1:c.132+30818A>G (H2BC3)	ENSP00000486472.1:n.132+30818A>G
NM_000410.3:c.887T>C , LRG_748t1:c.887T>C (HFE)	NP_000401.1:p.Ile296Thr
NM_001300749.1:c.887T>C (HFE)	NP_001287678.1:p.Ile296Thr
NM_139003.2:c.569T>C (HFE)	NP_620572.1:p.Ile190Thr
NM_139004.2:c.611T>C (HFE)	NP_620573.1:p.Ile204Thr
NM_139006.2:c.845T>C (HFE)	NP_620575.1:p.Ile282Thr
NM_139007.2:c.623T>C (HFE)	NP_620576.1:p.Ile208Thr
NM_139008.2:c.581T>C (HFE)	NP_620577.1:p.Ile194Thr
NM_139009.2:c.818T>C (HFE)	NP_620578.1:p.Ile273Thr
NM_139010.2:c.347T>C (HFE)	NP_620579.1:p.Ile116Thr
NM_139011.2:c.77-164T>C (HFE)	NP_620580.1:n.77-164T>C
XM_011514543.1:c.887T>C (HFE)	XP_011512845.1:p.Ile296Thr
XM_011514544.1:c.878T>C (HFE)	XP_011512846.1:p.Ile293Thr
XR_241893.2:n.1009T>C (HFE)
XM_011514543.3:c.887T>C (HFE)	XP_011512845.1:p.Ile296Thr
XR_241893.4:n.981T>C (HFE)
NM_001300749.2:c.887T>C (HFE)	NP_001287678.1:p.Ile296Thr
NM_139003.3:c.569T>C (HFE)	NP_620572.1:p.Ile190Thr
NM_139004.3:c.611T>C (HFE)	NP_620573.1:p.Ile204Thr
NM_139006.3:c.845T>C (HFE)	NP_620575.1:p.Ile282Thr
NM_139007.3:c.623T>C (HFE)	NP_620576.1:p.Ile208Thr
NM_139008.3:c.581T>C (HFE)	NP_620577.1:p.Ile194Thr
NM_139009.3:c.818T>C (HFE)	NP_620578.1:p.Ile273Thr
NM_139010.3:c.347T>C (HFE)	NP_620579.1:p.Ile116Thr
NM_139011.3:c.77-164T>C (HFE)	NP_620580.1:n.77-164T>C
NM_000410.4:c.887T>C (HFE) MANE Select	NP_000401.1:p.Ile296Thr
NM_001384164.1:c.887T>C (HFE)	NP_001371093.1:p.Ile296Thr