Canonical Allele Identifier: CA2677604918
Gene: H2BC4 HGNC NCBI
HFE HGNC NCBI
H2BC3 HGNC NCBI
HFE-AS1 HGNC NCBI

Linked Data

gnomAD v4: 6-26087378-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.26087378C>G , CM000668.2:g.26087378C>G GRCh38
NC_000006.11:g.26087606C>G , CM000668.1:g.26087606C>G GRCh37
NC_000006.10:g.26195585C>G NCBI36
NG_008720.2:g.5098C>G , LRG_748:g.5098C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000707188.1:c.1487G>C (H2BC4) ENSP00000516775.1:n.1487G>C
ENST00000317896.11:c.-63C>G (HFE) ENSP00000313776.7:n.-63C>G
ENST00000349999.8:c.-63C>G (HFE) ENSP00000259699.6:n.-63C>G
ENST00000352392.8:c.-63C>G (HFE) ENSP00000315936.4:n.-63C>G
ENST00000353147.9:c.-63C>G (HFE) ENSP00000312342.5:n.-63C>G
ENST00000357618.9:c.-63C>G (HFE) ENSP00000417404.1:n.-63C>G
ENST00000397022.7:c.-63C>G (HFE) ENSP00000380217.3:n.-63C>G
ENST00000483782.1:n.60C>G (HFE)
ENST00000629531.1:c.132+36395G>C (H2BC3) ENSP00000486472.1:n.132+36395G>C
NM_000410.3:c.-63C>G , LRG_748t1:c.-63C>G (HFE) NP_000401.1:n.-63C>G
NM_001300749.1:c.-63C>G (HFE) NP_001287678.1:n.-63C>G
NM_139003.2:c.-63C>G (HFE) NP_620572.1:n.-63C>G
NM_139004.2:c.-63C>G (HFE) NP_620573.1:n.-63C>G
NM_139006.2:c.-63C>G (HFE) NP_620575.1:n.-63C>G
NM_139007.2:c.-63C>G (HFE) NP_620576.1:n.-63C>G
NM_139008.2:c.-63C>G (HFE) NP_620577.1:n.-63C>G
NM_139009.2:c.-63C>G (HFE) NP_620578.1:n.-63C>G
NM_139010.2:c.-63C>G (HFE) NP_620579.1:n.-63C>G
NM_139011.2:c.-63C>G (HFE) NP_620580.1:n.-63C>G
XM_011514543.1:c.-63C>G (HFE) XP_011512845.1:n.-63C>G
XM_011514544.1:c.-63C>G (HFE) XP_011512846.1:n.-63C>G
XR_241893.2:n.60C>G (HFE)
NR_144383.1:n.1097G>C (HFE-AS1)
XM_011514543.3:c.-63C>G (HFE) XP_011512845.1:n.-63C>G
XR_241893.4:n.32C>G (HFE)
Search 100 bp 5'
Search 100 bp 3'