Canonical Allele Identifier: CA360871346
Gene: HSD17B4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119531373A>G , CM000667.2:g.119531373A>G GRCh38
NC_000005.9:g.118867068A>G , CM000667.1:g.118867068A>G GRCh37
NC_000005.8:g.118894967A>G NCBI36
NG_008182.1:g.83921A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.1893A>G ENSP00000426272.2:p.Ile631Met
ENST00000518349.6:c.1206A>G ENSP00000507185.1:p.Ile402Met
ENST00000682445.1:c.*1843A>G ENSP00000508061.1:n.*1843A>G
ENST00000682531.1:n.3854A>G
ENST00000682626.1:c.*1468A>G ENSP00000507857.1:n.*1468A>G
ENST00000682996.1:c.1890A>G ENSP00000507792.1:p.Ile630Met
ENST00000683265.1:n.3748A>G
ENST00000683335.1:n.3364A>G
ENST00000683371.1:c.*2092A>G ENSP00000508376.1:n.*2092A>G
ENST00000683372.1:n.3972A>G
ENST00000683390.1:n.3652A>G
ENST00000683476.1:n.804A>G
ENST00000683549.1:n.3576A>G
ENST00000683936.1:c.*3540A>G ENSP00000507721.1:n.*3540A>G
ENST00000683974.1:n.3691A>G
ENST00000683996.1:c.*1172A>G ENSP00000507060.1:n.*1172A>G
ENST00000684131.1:n.3494A>G
ENST00000684160.1:c.*1652A>G ENSP00000507821.1:n.*1652A>G
ENST00000684214.1:c.1854+1393A>G ENSP00000508071.1:n.1854+1393A>G
ENST00000414835.7:c.2037A>G ENSP00000411960.3:p.Ile679Met
ENST00000510025.7:c.1962A>G MANE Select ENSP00000424940.3:p.Ile654Met
ENST00000643250.1:c.*1834A>G ENSP00000494737.1:n.*1834A>G
ENST00000644146.1:c.*3233A>G ENSP00000494808.1:n.*3233A>G
ENST00000645099.1:c.1521A>G ENSP00000496091.1:p.Ile507Met
ENST00000645702.1:c.*1365A>G ENSP00000496432.1:n.*1365A>G
ENST00000645832.1:c.*1847A>G ENSP00000494316.1:n.*1847A>G
ENST00000646058.1:c.1962A>G ENSP00000493579.1:p.Ile654Met
ENST00000646355.1:c.*1968A>G ENSP00000493801.1:n.*1968A>G
ENST00000646554.1:c.*1940A>G ENSP00000494542.1:n.*1940A>G
ENST00000647335.1:c.*1929A>G ENSP00000495180.1:n.*1929A>G
ENST00000647342.1:c.*1893A>G ENSP00000494992.1:n.*1893A>G
ENST00000256216.10:c.1962A>G ENSP00000256216.6:p.Ile654Met
ENST00000414835.6:c.1542A>G ENSP00000411960.2:p.Ile514Met
ENST00000442060.7:c.*517A>G ENSP00000390208.3:n.*517A>G
ENST00000504811.5:c.2037A>G ENSP00000420914.1:p.Ile679Met
ENST00000509514.5:c.1176A>G ENSP00000426272.1:p.Ile392Met
ENST00000509606.1:n.257A>G
ENST00000509951.5:n.309+1393A>G
ENST00000510025.5:c.1890A>G ENSP00000424940.1:p.Ile630Met
ENST00000513628.5:c.1551A>G ENSP00000425993.1:p.Ile517Met
ENST00000515235.6:n.3715A>G
ENST00000515320.5:c.1908A>G ENSP00000424613.1:p.Ile636Met
ENST00000522415.5:n.629A>G
NM_000414.3:c.1962A>G NP_000405.1:p.Ile654Met
NM_001199291.2:c.2037A>G NP_001186220.1:p.Ile679Met
NM_001199292.1:c.1908A>G NP_001186221.1:p.Ile636Met
NM_001292027.1:c.1890A>G NP_001278956.1:p.Ile630Met
NM_001292028.1:c.1542A>G NP_001278957.1:p.Ile514Met
NM_000414.4:c.1962A>G MANE Select NP_000405.1:p.Ile654Met
NM_001199291.3:c.2037A>G NP_001186220.1:p.Ile679Met
NM_001199292.2:c.1908A>G NP_001186221.1:p.Ile636Met
NM_001292027.2:c.1890A>G NP_001278956.1:p.Ile630Met
NM_001292028.2:c.1542A>G NP_001278957.1:p.Ile514Met
NM_001374497.1:c.1953A>G NP_001361426.1:p.Ile651Met
NM_001374498.1:c.1890A>G NP_001361427.1:p.Ile630Met
NM_001374499.1:c.1635A>G NP_001361428.1:p.Ile545Met
NM_001374500.1:c.1521A>G NP_001361429.1:p.Ile507Met
NM_001374501.1:c.1551A>G NP_001361430.1:p.Ile517Met
NM_001374502.1:c.1551A>G NP_001361431.1:p.Ile517Met
NM_001374503.1:c.1551A>G NP_001361432.1:p.Ile517Met
NR_164653.1:n.2059A>G
NR_164654.1:n.2327A>G