Canonical Allele Identifier: CA360869011
Gene: HSD17B4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119515044C>G , CM000667.2:g.119515044C>G GRCh38
NC_000005.9:g.118850739C>G , CM000667.1:g.118850739C>G GRCh37
NC_000005.8:g.118878638C>G NCBI36
NG_008182.1:g.67592C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.1432C>G ENSP00000426272.2:p.Gln478Glu
ENST00000518349.6:c.745C>G ENSP00000507185.1:p.Gln249Glu
ENST00000520244.6:n.3239C>G
ENST00000682445.1:c.*1382C>G ENSP00000508061.1:n.*1382C>G
ENST00000682531.1:n.3393C>G
ENST00000682626.1:c.*1007C>G ENSP00000507857.1:n.*1007C>G
ENST00000682996.1:c.1429C>G ENSP00000507792.1:p.Gln477Glu
ENST00000683265.1:n.3287C>G
ENST00000683335.1:n.2903C>G
ENST00000683371.1:c.*1631C>G ENSP00000508376.1:n.*1631C>G
ENST00000683372.1:n.3511C>G
ENST00000683390.1:n.3191C>G
ENST00000683549.1:n.3115C>G
ENST00000683936.1:c.*3079C>G ENSP00000507721.1:n.*3079C>G
ENST00000683974.1:n.3230C>G
ENST00000683996.1:c.*711C>G ENSP00000507060.1:n.*711C>G
ENST00000684131.1:n.3033C>G
ENST00000684160.1:c.*1191C>G ENSP00000507821.1:n.*1191C>G
ENST00000684214.1:c.1501C>G ENSP00000508071.1:p.Gln501Glu
ENST00000414835.7:c.1576C>G ENSP00000411960.3:p.Gln526Glu
ENST00000510025.7:c.1501C>G MANE Select ENSP00000424940.3:p.Gln501Glu
ENST00000643250.1:c.*1373C>G ENSP00000494737.1:n.*1373C>G
ENST00000644146.1:c.*2772C>G ENSP00000494808.1:n.*2772C>G
ENST00000645099.1:c.1060C>G ENSP00000496091.1:p.Gln354Glu
ENST00000645702.1:c.*904C>G ENSP00000496432.1:n.*904C>G
ENST00000645832.1:c.*1386C>G ENSP00000494316.1:n.*1386C>G
ENST00000646058.1:c.1501C>G ENSP00000493579.1:p.Gln501Glu
ENST00000646355.1:c.*1507C>G ENSP00000493801.1:n.*1507C>G
ENST00000646554.1:c.*1479C>G ENSP00000494542.1:n.*1479C>G
ENST00000647335.1:c.*1468C>G ENSP00000495180.1:n.*1468C>G
ENST00000647342.1:c.*1432C>G ENSP00000494992.1:n.*1432C>G
ENST00000256216.10:c.1501C>G ENSP00000256216.6:p.Gln501Glu
ENST00000414835.6:c.1081C>G ENSP00000411960.2:p.Gln361Glu
ENST00000442060.7:c.*63C>G ENSP00000390208.3:n.*63C>G
ENST00000504811.5:c.1576C>G ENSP00000420914.1:p.Gln526Glu
ENST00000509514.5:c.715C>G ENSP00000426272.1:p.Gln239Glu
ENST00000510025.5:c.1429C>G ENSP00000424940.1:p.Gln477Glu
ENST00000513628.5:c.1090C>G ENSP00000425993.1:p.Gln364Glu
ENST00000515235.6:n.3254C>G
ENST00000515320.5:c.1447C>G ENSP00000424613.1:p.Gln483Glu
ENST00000518349.5:n.635C>G
ENST00000520244.5:n.284C>G
ENST00000522415.5:n.168C>G
NM_000414.3:c.1501C>G NP_000405.1:p.Gln501Glu
NM_001199291.2:c.1576C>G NP_001186220.1:p.Gln526Glu
NM_001199292.1:c.1447C>G NP_001186221.1:p.Gln483Glu
NM_001292027.1:c.1429C>G NP_001278956.1:p.Gln477Glu
NM_001292028.1:c.1081C>G NP_001278957.1:p.Gln361Glu
NM_000414.4:c.1501C>G MANE Select NP_000405.1:p.Gln501Glu
NM_001199291.3:c.1576C>G NP_001186220.1:p.Gln526Glu
NM_001199292.2:c.1447C>G NP_001186221.1:p.Gln483Glu
NM_001292027.2:c.1429C>G NP_001278956.1:p.Gln477Glu
NM_001292028.2:c.1081C>G NP_001278957.1:p.Gln361Glu
NM_001374497.1:c.1492C>G NP_001361426.1:p.Gln498Glu
NM_001374498.1:c.1429C>G NP_001361427.1:p.Gln477Glu
NM_001374499.1:c.1174C>G NP_001361428.1:p.Gln392Glu
NM_001374500.1:c.1060C>G NP_001361429.1:p.Gln354Glu
NM_001374501.1:c.1090C>G NP_001361430.1:p.Gln364Glu
NM_001374502.1:c.1090C>G NP_001361431.1:p.Gln364Glu
NM_001374503.1:c.1090C>G NP_001361432.1:p.Gln364Glu
NR_164653.1:n.1598C>G
NR_164654.1:n.1866C>G