Canonical Allele Identifier: CA280943

Linked Data

ClinVar Variation Id: 13
ClinVar RCV Id: RCV000000030
dbSNP Id: rs28934597
gnomAD v2: 6-26091269-G-C
gnomAD v3: 6-26091041-G-C
gnomAD v4: 6-26091041-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.26091041G>C , CM000668.2:g.26091041G>C GRCh38
NC_000006.11:g.26091269G>C , CM000668.1:g.26091269G>C GRCh37
NC_000006.10:g.26199248G>C NCBI36
NG_008720.2:g.8761G>C , LRG_748:g.8761G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000485729.2:c.277G>C (HFE) ENSP00000417534.2:p.Gly93Arg
ENST00000707188.1:c.391-7C>G (H2BC4) ENSP00000516775.1:n.391-7C>G
ENST00000357618.10:c.277G>C (HFE) MANE Select ENSP00000417404.1:p.Gly93Arg
ENST00000309234.10:c.277G>C (HFE) ENSP00000311698.6:p.Gly93Arg
ENST00000317896.11:c.277G>C (HFE) ENSP00000313776.7:p.Gly93Arg
ENST00000336625.12:c.277G>C (HFE) ENSP00000337819.8:p.Gly93Arg
ENST00000349999.8:c.77-273G>C (HFE) ENSP00000259699.6:n.77-273G>C
ENST00000352392.8:c.77-2078G>C (HFE) ENSP00000315936.4:n.77-2078G>C
ENST00000353147.9:c.77-1644G>C (HFE) ENSP00000312342.5:n.77-1644G>C
ENST00000357618.9:c.277G>C (HFE) ENSP00000417404.1:p.Gly93Arg
ENST00000397022.7:c.208G>C (HFE) ENSP00000380217.3:p.Gly70Arg
ENST00000461397.5:c.277G>C (HFE) ENSP00000420802.1:p.Gly93Arg
ENST00000470149.5:c.277G>C (HFE) ENSP00000419725.1:p.Gly93Arg
ENST00000483782.1:n.399G>C (HFE)
ENST00000486147.1:n.320G>C (HFE)
ENST00000488199.5:c.77-273G>C (HFE) ENSP00000420559.1:n.77-273G>C
ENST00000629531.1:c.132+32732C>G (H2BC3) ENSP00000486472.1:n.132+32732C>G
NM_000410.3:c.277G>C , LRG_748t1:c.277G>C (HFE) NP_000401.1:p.Gly93Arg
NM_001300749.1:c.277G>C (HFE) NP_001287678.1:p.Gly93Arg
NM_139003.2:c.277G>C (HFE) NP_620572.1:p.Gly93Arg
NM_139004.2:c.277G>C (HFE) NP_620573.1:p.Gly93Arg
NM_139006.2:c.277G>C (HFE) NP_620575.1:p.Gly93Arg
NM_139007.2:c.77-273G>C (HFE) NP_620576.1:n.77-273G>C
NM_139008.2:c.77-273G>C (HFE) NP_620577.1:n.77-273G>C
NM_139009.2:c.208G>C (HFE) NP_620578.1:p.Gly70Arg
NM_139010.2:c.77-1644G>C (HFE) NP_620579.1:n.77-1644G>C
NM_139011.2:c.77-2078G>C (HFE) NP_620580.1:n.77-2078G>C
XM_011514543.1:c.277G>C (HFE) XP_011512845.1:p.Gly93Arg
XM_011514544.1:c.277G>C (HFE) XP_011512846.1:p.Gly93Arg
XR_241893.2:n.399G>C (HFE)
XM_011514543.3:c.277G>C (HFE) XP_011512845.1:p.Gly93Arg
XR_241893.4:n.371G>C (HFE)
NM_001300749.2:c.277G>C (HFE) NP_001287678.1:p.Gly93Arg
NM_139003.3:c.277G>C (HFE) NP_620572.1:p.Gly93Arg
NM_139004.3:c.277G>C (HFE) NP_620573.1:p.Gly93Arg
NM_139006.3:c.277G>C (HFE) NP_620575.1:p.Gly93Arg
NM_139007.3:c.77-273G>C (HFE) NP_620576.1:n.77-273G>C
NM_139008.3:c.77-273G>C (HFE) NP_620577.1:n.77-273G>C
NM_139009.3:c.208G>C (HFE) NP_620578.1:p.Gly70Arg
NM_139010.3:c.77-1644G>C (HFE) NP_620579.1:n.77-1644G>C
NM_139011.3:c.77-2078G>C (HFE) NP_620580.1:n.77-2078G>C
NM_000410.4:c.277G>C (HFE) MANE Select NP_000401.1:p.Gly93Arg
NM_001384164.1:c.277G>C (HFE) NP_001371093.1:p.Gly93Arg