Canonical Allele Identifier: CA360866137
Gene: HSD17B4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119478872A>C , CM000667.2:g.119478872A>C GRCh38
NC_000005.9:g.118814567A>C , CM000667.1:g.118814567A>C GRCh37
NC_000005.8:g.118842466A>C NCBI36
NG_008182.1:g.31420A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.473A>C ENSP00000426272.2:p.Asn158Thr
ENST00000518349.6:c.113-17671A>C ENSP00000507185.1:n.113-17671A>C
ENST00000682445.1:c.*354A>C ENSP00000508061.1:n.*354A>C
ENST00000682531.1:n.574A>C
ENST00000682626.1:c.501A>C ENSP00000507857.1:p.Gln167His
ENST00000682996.1:c.473A>C ENSP00000507792.1:p.Asn158Thr
ENST00000683265.1:n.566A>C
ENST00000683371.1:c.*603A>C ENSP00000508376.1:n.*603A>C
ENST00000683390.1:n.2163A>C
ENST00000683549.1:n.394A>C
ENST00000683936.1:c.*358A>C ENSP00000507721.1:n.*358A>C
ENST00000683974.1:n.555A>C
ENST00000683996.1:c.62A>C ENSP00000507060.1:p.Asn21Thr
ENST00000684131.1:n.312A>C
ENST00000684160.1:c.*163A>C ENSP00000507821.1:n.*163A>C
ENST00000684214.1:c.473A>C ENSP00000508071.1:p.Asn158Thr
ENST00000414835.7:c.548A>C ENSP00000411960.3:p.Asn183Thr
ENST00000510025.7:c.473A>C MANE Select ENSP00000424940.3:p.Asn158Thr
ENST00000643250.1:c.*345A>C ENSP00000494737.1:n.*345A>C
ENST00000644146.1:c.*51A>C ENSP00000494808.1:n.*51A>C
ENST00000645099.1:c.32A>C ENSP00000496091.1:p.Asn11Thr
ENST00000645702.1:c.62A>C ENSP00000496432.1:p.Asn21Thr
ENST00000645832.1:c.*358A>C ENSP00000494316.1:n.*358A>C
ENST00000646058.1:c.473A>C ENSP00000493579.1:p.Asn158Thr
ENST00000646355.1:c.*479A>C ENSP00000493801.1:n.*479A>C
ENST00000646554.1:c.*451A>C ENSP00000494542.1:n.*451A>C
ENST00000646590.1:c.464A>C ENSP00000494892.1:p.Asn155Thr
ENST00000647335.1:c.*440A>C ENSP00000495180.1:n.*440A>C
ENST00000647342.1:c.*404A>C ENSP00000494992.1:n.*404A>C
ENST00000256216.10:c.473A>C ENSP00000256216.6:p.Asn158Thr
ENST00000414835.6:c.53A>C ENSP00000411960.2:p.Asn18Thr
ENST00000442060.7:c.473A>C ENSP00000390208.3:p.Asn158Thr
ENST00000503168.5:n.462A>C
ENST00000504811.5:c.548A>C ENSP00000420914.1:p.Asn183Thr
ENST00000505181.5:n.176A>C
ENST00000508788.5:n.375A>C
ENST00000509514.5:c.-412A>C ENSP00000426272.1:n.-412A>C
ENST00000510025.5:c.401A>C ENSP00000424940.1:p.Asn134Thr
ENST00000512644.1:n.41A>C
ENST00000512841.5:n.521A>C
ENST00000513628.5:c.62A>C ENSP00000425993.1:p.Asn21Thr
ENST00000515235.6:n.533A>C
ENST00000515320.5:c.419A>C ENSP00000424613.1:p.Asn140Thr
NM_000414.3:c.473A>C NP_000405.1:p.Asn158Thr
NM_001199291.2:c.548A>C NP_001186220.1:p.Asn183Thr
NM_001199292.1:c.419A>C NP_001186221.1:p.Asn140Thr
NM_001292027.1:c.401A>C NP_001278956.1:p.Asn134Thr
NM_001292028.1:c.53A>C NP_001278957.1:p.Asn18Thr
NM_000414.4:c.473A>C MANE Select NP_000405.1:p.Asn158Thr
NM_001199291.3:c.548A>C NP_001186220.1:p.Asn183Thr
NM_001199292.2:c.419A>C NP_001186221.1:p.Asn140Thr
NM_001292027.2:c.401A>C NP_001278956.1:p.Asn134Thr
NM_001292028.2:c.53A>C NP_001278957.1:p.Asn18Thr
NM_001374497.1:c.464A>C NP_001361426.1:p.Asn155Thr
NM_001374498.1:c.473A>C NP_001361427.1:p.Asn158Thr
NM_001374499.1:c.146A>C NP_001361428.1:p.Asn49Thr
NM_001374500.1:c.32A>C NP_001361429.1:p.Asn11Thr
NM_001374501.1:c.62A>C NP_001361430.1:p.Asn21Thr
NM_001374502.1:c.62A>C NP_001361431.1:p.Asn21Thr
NM_001374503.1:c.62A>C NP_001361432.1:p.Asn21Thr
NR_164653.1:n.552A>C
NR_164654.1:n.740A>C