Canonical Allele Identifier: CA3666752

Linked Data

ClinVar Variation Id: 461195
dbSNP Id: rs143175221
gnomAD v2: 6-26093180-T-C
gnomAD v3: 6-26092952-T-C
gnomAD v4: 6-26092952-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.26092952T>C , CM000668.2:g.26092952T>C GRCh38
NC_000006.11:g.26093180T>C , CM000668.1:g.26093180T>C GRCh37
NC_000006.10:g.26201159T>C NCBI36
NG_008720.2:g.10672T>C , LRG_748:g.10672T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000485729.2:c.884T>C (HFE) ENSP00000417534.2:p.Val295Ala
ENST00000707188.1:c.391-1918A>G (H2BC4) ENSP00000516775.1:n.391-1918A>G
ENST00000357618.10:c.884T>C (HFE) MANE Select ENSP00000417404.1:p.Val295Ala
ENST00000309234.10:c.884T>C (HFE) ENSP00000311698.6:p.Val295Ala
ENST00000317896.11:c.608T>C (HFE) ENSP00000313776.7:p.Val203Ala
ENST00000336625.12:c.566T>C (HFE) ENSP00000337819.8:p.Val189Ala
ENST00000349999.8:c.620T>C (HFE) ENSP00000259699.6:p.Val207Ala
ENST00000352392.8:c.77-167T>C (HFE) ENSP00000315936.4:n.77-167T>C
ENST00000353147.9:c.344T>C (HFE) ENSP00000312342.5:p.Val115Ala
ENST00000357618.9:c.884T>C (HFE) ENSP00000417404.1:p.Val295Ala
ENST00000397022.7:c.815T>C (HFE) ENSP00000380217.3:p.Val272Ala
ENST00000461397.5:c.842T>C (HFE) ENSP00000420802.1:p.Val281Ala
ENST00000470149.5:c.875T>C (HFE) ENSP00000419725.1:p.Val292Ala
ENST00000483782.1:n.1215T>C (HFE)
ENST00000485729.1:c.5T>C (HFE) ENSP00000417534.1:p.Val2Ala
ENST00000486147.1:n.727T>C (HFE)
ENST00000488199.5:c.578T>C (HFE) ENSP00000420559.1:p.Val193Ala
ENST00000629531.1:c.132+30821A>G (H2BC3) ENSP00000486472.1:n.132+30821A>G
NM_000410.3:c.884T>C , LRG_748t1:c.884T>C (HFE) NP_000401.1:p.Val295Ala
NM_001300749.1:c.884T>C (HFE) NP_001287678.1:p.Val295Ala
NM_139003.2:c.566T>C (HFE) NP_620572.1:p.Val189Ala
NM_139004.2:c.608T>C (HFE) NP_620573.1:p.Val203Ala
NM_139006.2:c.842T>C (HFE) NP_620575.1:p.Val281Ala
NM_139007.2:c.620T>C (HFE) NP_620576.1:p.Val207Ala
NM_139008.2:c.578T>C (HFE) NP_620577.1:p.Val193Ala
NM_139009.2:c.815T>C (HFE) NP_620578.1:p.Val272Ala
NM_139010.2:c.344T>C (HFE) NP_620579.1:p.Val115Ala
NM_139011.2:c.77-167T>C (HFE) NP_620580.1:n.77-167T>C
XM_011514543.1:c.884T>C (HFE) XP_011512845.1:p.Val295Ala
XM_011514544.1:c.875T>C (HFE) XP_011512846.1:p.Val292Ala
XR_241893.2:n.1006T>C (HFE)
XM_011514543.3:c.884T>C (HFE) XP_011512845.1:p.Val295Ala
XR_241893.4:n.978T>C (HFE)
NM_001300749.2:c.884T>C (HFE) NP_001287678.1:p.Val295Ala
NM_139003.3:c.566T>C (HFE) NP_620572.1:p.Val189Ala
NM_139004.3:c.608T>C (HFE) NP_620573.1:p.Val203Ala
NM_139006.3:c.842T>C (HFE) NP_620575.1:p.Val281Ala
NM_139007.3:c.620T>C (HFE) NP_620576.1:p.Val207Ala
NM_139008.3:c.578T>C (HFE) NP_620577.1:p.Val193Ala
NM_139009.3:c.815T>C (HFE) NP_620578.1:p.Val272Ala
NM_139010.3:c.344T>C (HFE) NP_620579.1:p.Val115Ala
NM_139011.3:c.77-167T>C (HFE) NP_620580.1:n.77-167T>C
NM_000410.4:c.884T>C (HFE) MANE Select NP_000401.1:p.Val295Ala
NM_001384164.1:c.884T>C (HFE) NP_001371093.1:p.Val295Ala