Canonical Allele Identifier: CA280945

Linked Data

ClinVar Variation Id: 17
ClinVar RCV Id: RCV000000034
dbSNP Id: rs28934595
gnomAD v4: 6-26091354-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.26091354A>C , CM000668.2:g.26091354A>C GRCh38
NC_000006.11:g.26091582A>C , CM000668.1:g.26091582A>C GRCh37
NC_000006.10:g.26199561A>C NCBI36
NG_008720.2:g.9074A>C , LRG_748:g.9074A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000485729.2:c.381A>C (HFE) ENSP00000417534.2:p.Gln127His
ENST00000707188.1:c.391-320T>G (H2BC4) ENSP00000516775.1:n.391-320T>G
ENST00000357618.10:c.381A>C (HFE) MANE Select ENSP00000417404.1:p.Gln127His
ENST00000309234.10:c.381A>C (HFE) ENSP00000311698.6:p.Gln127His
ENST00000317896.11:c.340+250A>C (HFE) ENSP00000313776.7:n.340+250A>C
ENST00000336625.12:c.340+250A>C (HFE) ENSP00000337819.8:n.340+250A>C
ENST00000349999.8:c.117A>C (HFE) ENSP00000259699.6:p.Gln39His
ENST00000352392.8:c.77-1765A>C (HFE) ENSP00000315936.4:n.77-1765A>C
ENST00000353147.9:c.77-1331A>C (HFE) ENSP00000312342.5:n.77-1331A>C
ENST00000357618.9:c.381A>C (HFE) ENSP00000417404.1:p.Gln127His
ENST00000397022.7:c.312A>C (HFE) ENSP00000380217.3:p.Gln104His
ENST00000461397.5:c.381A>C (HFE) ENSP00000420802.1:p.Gln127His
ENST00000470149.5:c.381A>C (HFE) ENSP00000419725.1:p.Gln127His
ENST00000483782.1:n.712A>C (HFE)
ENST00000486147.1:n.383+250A>C (HFE)
ENST00000488199.5:c.117A>C (HFE) ENSP00000420559.1:p.Gln39His
ENST00000629531.1:c.132+32419T>G (H2BC3) ENSP00000486472.1:n.132+32419T>G
NM_000410.3:c.381A>C , LRG_748t1:c.381A>C (HFE) NP_000401.1:p.Gln127His
NM_001300749.1:c.381A>C (HFE) NP_001287678.1:p.Gln127His
NM_139003.2:c.340+250A>C (HFE) NP_620572.1:n.340+250A>C
NM_139004.2:c.340+250A>C (HFE) NP_620573.1:n.340+250A>C
NM_139006.2:c.381A>C (HFE) NP_620575.1:p.Gln127His
NM_139007.2:c.117A>C (HFE) NP_620576.1:p.Gln39His
NM_139008.2:c.117A>C (HFE) NP_620577.1:p.Gln39His
NM_139009.2:c.312A>C (HFE) NP_620578.1:p.Gln104His
NM_139010.2:c.77-1331A>C (HFE) NP_620579.1:n.77-1331A>C
NM_139011.2:c.77-1765A>C (HFE) NP_620580.1:n.77-1765A>C
XM_011514543.1:c.381A>C (HFE) XP_011512845.1:p.Gln127His
XM_011514544.1:c.381A>C (HFE) XP_011512846.1:p.Gln127His
XR_241893.2:n.503A>C (HFE)
XM_011514543.3:c.381A>C (HFE) XP_011512845.1:p.Gln127His
XR_241893.4:n.475A>C (HFE)
NM_001300749.2:c.381A>C (HFE) NP_001287678.1:p.Gln127His
NM_139003.3:c.340+250A>C (HFE) NP_620572.1:n.340+250A>C
NM_139004.3:c.340+250A>C (HFE) NP_620573.1:n.340+250A>C
NM_139006.3:c.381A>C (HFE) NP_620575.1:p.Gln127His
NM_139007.3:c.117A>C (HFE) NP_620576.1:p.Gln39His
NM_139008.3:c.117A>C (HFE) NP_620577.1:p.Gln39His
NM_139009.3:c.312A>C (HFE) NP_620578.1:p.Gln104His
NM_139010.3:c.77-1331A>C (HFE) NP_620579.1:n.77-1331A>C
NM_139011.3:c.77-1765A>C (HFE) NP_620580.1:n.77-1765A>C
NM_000410.4:c.381A>C (HFE) MANE Select NP_000401.1:p.Gln127His
NM_001384164.1:c.381A>C (HFE) NP_001371093.1:p.Gln127His