Canonical Allele Identifier: CA360871207
Gene: HSD17B4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119531345A>T , CM000667.2:g.119531345A>T GRCh38
NC_000005.9:g.118867040A>T , CM000667.1:g.118867040A>T GRCh37
NC_000005.8:g.118894939A>T NCBI36
NG_008182.1:g.83893A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.1865A>T ENSP00000426272.2:p.Lys622Ile
ENST00000518349.6:c.1178A>T ENSP00000507185.1:p.Lys393Ile
ENST00000682445.1:c.*1815A>T ENSP00000508061.1:n.*1815A>T
ENST00000682531.1:n.3826A>T
ENST00000682626.1:c.*1440A>T ENSP00000507857.1:n.*1440A>T
ENST00000682996.1:c.1862A>T ENSP00000507792.1:p.Lys621Ile
ENST00000683265.1:n.3720A>T
ENST00000683335.1:n.3336A>T
ENST00000683371.1:c.*2064A>T ENSP00000508376.1:n.*2064A>T
ENST00000683372.1:n.3944A>T
ENST00000683390.1:n.3624A>T
ENST00000683476.1:n.776A>T
ENST00000683549.1:n.3548A>T
ENST00000683936.1:c.*3512A>T ENSP00000507721.1:n.*3512A>T
ENST00000683974.1:n.3663A>T
ENST00000683996.1:c.*1144A>T ENSP00000507060.1:n.*1144A>T
ENST00000684131.1:n.3466A>T
ENST00000684160.1:c.*1624A>T ENSP00000507821.1:n.*1624A>T
ENST00000684214.1:c.1854+1365A>T ENSP00000508071.1:n.1854+1365A>T
ENST00000414835.7:c.2009A>T ENSP00000411960.3:p.Lys670Ile
ENST00000510025.7:c.1934A>T MANE Select ENSP00000424940.3:p.Lys645Ile
ENST00000643250.1:c.*1806A>T ENSP00000494737.1:n.*1806A>T
ENST00000644146.1:c.*3205A>T ENSP00000494808.1:n.*3205A>T
ENST00000645099.1:c.1493A>T ENSP00000496091.1:p.Lys498Ile
ENST00000645702.1:c.*1337A>T ENSP00000496432.1:n.*1337A>T
ENST00000645832.1:c.*1819A>T ENSP00000494316.1:n.*1819A>T
ENST00000646058.1:c.1934A>T ENSP00000493579.1:p.Lys645Ile
ENST00000646355.1:c.*1940A>T ENSP00000493801.1:n.*1940A>T
ENST00000646554.1:c.*1912A>T ENSP00000494542.1:n.*1912A>T
ENST00000647335.1:c.*1901A>T ENSP00000495180.1:n.*1901A>T
ENST00000647342.1:c.*1865A>T ENSP00000494992.1:n.*1865A>T
ENST00000256216.10:c.1934A>T ENSP00000256216.6:p.Lys645Ile
ENST00000414835.6:c.1514A>T ENSP00000411960.2:p.Lys505Ile
ENST00000442060.7:c.*489A>T ENSP00000390208.3:n.*489A>T
ENST00000504811.5:c.2009A>T ENSP00000420914.1:p.Lys670Ile
ENST00000509514.5:c.1148A>T ENSP00000426272.1:p.Lys383Ile
ENST00000509606.1:n.229A>T
ENST00000509951.5:n.309+1365A>T
ENST00000510025.5:c.1862A>T ENSP00000424940.1:p.Lys621Ile
ENST00000513628.5:c.1523A>T ENSP00000425993.1:p.Lys508Ile
ENST00000515235.6:n.3687A>T
ENST00000515320.5:c.1880A>T ENSP00000424613.1:p.Lys627Ile
ENST00000522415.5:n.601A>T
NM_000414.3:c.1934A>T NP_000405.1:p.Lys645Ile
NM_001199291.2:c.2009A>T NP_001186220.1:p.Lys670Ile
NM_001199292.1:c.1880A>T NP_001186221.1:p.Lys627Ile
NM_001292027.1:c.1862A>T NP_001278956.1:p.Lys621Ile
NM_001292028.1:c.1514A>T NP_001278957.1:p.Lys505Ile
NM_000414.4:c.1934A>T MANE Select NP_000405.1:p.Lys645Ile
NM_001199291.3:c.2009A>T NP_001186220.1:p.Lys670Ile
NM_001199292.2:c.1880A>T NP_001186221.1:p.Lys627Ile
NM_001292027.2:c.1862A>T NP_001278956.1:p.Lys621Ile
NM_001292028.2:c.1514A>T NP_001278957.1:p.Lys505Ile
NM_001374497.1:c.1925A>T NP_001361426.1:p.Lys642Ile
NM_001374498.1:c.1862A>T NP_001361427.1:p.Lys621Ile
NM_001374499.1:c.1607A>T NP_001361428.1:p.Lys536Ile
NM_001374500.1:c.1493A>T NP_001361429.1:p.Lys498Ile
NM_001374501.1:c.1523A>T NP_001361430.1:p.Lys508Ile
NM_001374502.1:c.1523A>T NP_001361431.1:p.Lys508Ile
NM_001374503.1:c.1523A>T NP_001361432.1:p.Lys508Ile
NR_164653.1:n.2031A>T
NR_164654.1:n.2299A>T