Canonical Allele Identifier: CA360871350
Gene: HSD17B4 HGNC NCBI

Linked Data

dbSNP Id: rs1440592692

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119531374A>G , CM000667.2:g.119531374A>G GRCh38
NC_000005.9:g.118867069A>G , CM000667.1:g.118867069A>G GRCh37
NC_000005.8:g.118894968A>G NCBI36
NG_008182.1:g.83922A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.1894A>G ENSP00000426272.2:p.Thr632Ala
ENST00000518349.6:c.1207A>G ENSP00000507185.1:p.Thr403Ala
ENST00000682445.1:c.*1844A>G ENSP00000508061.1:n.*1844A>G
ENST00000682531.1:n.3855A>G
ENST00000682626.1:c.*1469A>G ENSP00000507857.1:n.*1469A>G
ENST00000682996.1:c.1891A>G ENSP00000507792.1:p.Thr631Ala
ENST00000683265.1:n.3749A>G
ENST00000683335.1:n.3365A>G
ENST00000683371.1:c.*2093A>G ENSP00000508376.1:n.*2093A>G
ENST00000683372.1:n.3973A>G
ENST00000683390.1:n.3653A>G
ENST00000683476.1:n.805A>G
ENST00000683549.1:n.3577A>G
ENST00000683936.1:c.*3541A>G ENSP00000507721.1:n.*3541A>G
ENST00000683974.1:n.3692A>G
ENST00000683996.1:c.*1173A>G ENSP00000507060.1:n.*1173A>G
ENST00000684131.1:n.3495A>G
ENST00000684160.1:c.*1653A>G ENSP00000507821.1:n.*1653A>G
ENST00000684214.1:c.1854+1394A>G ENSP00000508071.1:n.1854+1394A>G
ENST00000414835.7:c.2038A>G ENSP00000411960.3:p.Thr680Ala
ENST00000510025.7:c.1963A>G MANE Select ENSP00000424940.3:p.Thr655Ala
ENST00000643250.1:c.*1835A>G ENSP00000494737.1:n.*1835A>G
ENST00000644146.1:c.*3234A>G ENSP00000494808.1:n.*3234A>G
ENST00000645099.1:c.1522A>G ENSP00000496091.1:p.Thr508Ala
ENST00000645702.1:c.*1366A>G ENSP00000496432.1:n.*1366A>G
ENST00000645832.1:c.*1848A>G ENSP00000494316.1:n.*1848A>G
ENST00000646058.1:c.1963A>G ENSP00000493579.1:p.Thr655Ala
ENST00000646355.1:c.*1969A>G ENSP00000493801.1:n.*1969A>G
ENST00000646554.1:c.*1941A>G ENSP00000494542.1:n.*1941A>G
ENST00000647335.1:c.*1930A>G ENSP00000495180.1:n.*1930A>G
ENST00000647342.1:c.*1894A>G ENSP00000494992.1:n.*1894A>G
ENST00000256216.10:c.1963A>G ENSP00000256216.6:p.Thr655Ala
ENST00000414835.6:c.1543A>G ENSP00000411960.2:p.Thr515Ala
ENST00000442060.7:c.*518A>G ENSP00000390208.3:n.*518A>G
ENST00000504811.5:c.2038A>G ENSP00000420914.1:p.Thr680Ala
ENST00000509514.5:c.1177A>G ENSP00000426272.1:p.Thr393Ala
ENST00000509606.1:n.258A>G
ENST00000509951.5:n.309+1394A>G
ENST00000510025.5:c.1891A>G ENSP00000424940.1:p.Thr631Ala
ENST00000513628.5:c.1552A>G ENSP00000425993.1:p.Thr518Ala
ENST00000515235.6:n.3716A>G
ENST00000515320.5:c.1909A>G ENSP00000424613.1:p.Thr637Ala
ENST00000522415.5:n.630A>G
NM_000414.3:c.1963A>G NP_000405.1:p.Thr655Ala
NM_001199291.2:c.2038A>G NP_001186220.1:p.Thr680Ala
NM_001199292.1:c.1909A>G NP_001186221.1:p.Thr637Ala
NM_001292027.1:c.1891A>G NP_001278956.1:p.Thr631Ala
NM_001292028.1:c.1543A>G NP_001278957.1:p.Thr515Ala
NM_000414.4:c.1963A>G MANE Select NP_000405.1:p.Thr655Ala
NM_001199291.3:c.2038A>G NP_001186220.1:p.Thr680Ala
NM_001199292.2:c.1909A>G NP_001186221.1:p.Thr637Ala
NM_001292027.2:c.1891A>G NP_001278956.1:p.Thr631Ala
NM_001292028.2:c.1543A>G NP_001278957.1:p.Thr515Ala
NM_001374497.1:c.1954A>G NP_001361426.1:p.Thr652Ala
NM_001374498.1:c.1891A>G NP_001361427.1:p.Thr631Ala
NM_001374499.1:c.1636A>G NP_001361428.1:p.Thr546Ala
NM_001374500.1:c.1522A>G NP_001361429.1:p.Thr508Ala
NM_001374501.1:c.1552A>G NP_001361430.1:p.Thr518Ala
NM_001374502.1:c.1552A>G NP_001361431.1:p.Thr518Ala
NM_001374503.1:c.1552A>G NP_001361432.1:p.Thr518Ala
NR_164653.1:n.2060A>G
NR_164654.1:n.2328A>G