Canonical Allele Identifier: CA360866282
Gene: HSD17B4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119478939T>G , CM000667.2:g.119478939T>G GRCh38
NC_000005.9:g.118814634T>G , CM000667.1:g.118814634T>G GRCh37
NC_000005.8:g.118842533T>G NCBI36
NG_008182.1:g.31487T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.540T>G ENSP00000426272.2:p.Ile180Met
ENST00000518349.6:c.113-17604T>G ENSP00000507185.1:n.113-17604T>G
ENST00000682445.1:c.*421T>G ENSP00000508061.1:n.*421T>G
ENST00000682531.1:n.641T>G
ENST00000682626.1:c.*46T>G ENSP00000507857.1:n.*46T>G
ENST00000682996.1:c.540T>G ENSP00000507792.1:p.Ile180Met
ENST00000683265.1:n.633T>G
ENST00000683371.1:c.*670T>G ENSP00000508376.1:n.*670T>G
ENST00000683390.1:n.2230T>G
ENST00000683549.1:n.461T>G
ENST00000683936.1:c.*425T>G ENSP00000507721.1:n.*425T>G
ENST00000683974.1:n.622T>G
ENST00000683996.1:c.129T>G ENSP00000507060.1:p.Ile43Met
ENST00000684131.1:n.379T>G
ENST00000684160.1:c.*230T>G ENSP00000507821.1:n.*230T>G
ENST00000684214.1:c.540T>G ENSP00000508071.1:p.Ile180Met
ENST00000414835.7:c.615T>G ENSP00000411960.3:p.Ile205Met
ENST00000510025.7:c.540T>G MANE Select ENSP00000424940.3:p.Ile180Met
ENST00000643250.1:c.*412T>G ENSP00000494737.1:n.*412T>G
ENST00000644146.1:c.*118T>G ENSP00000494808.1:n.*118T>G
ENST00000645099.1:c.99T>G ENSP00000496091.1:p.Ile33Met
ENST00000645702.1:c.129T>G ENSP00000496432.1:p.Ile43Met
ENST00000645832.1:c.*425T>G ENSP00000494316.1:n.*425T>G
ENST00000646058.1:c.540T>G ENSP00000493579.1:p.Ile180Met
ENST00000646355.1:c.*546T>G ENSP00000493801.1:n.*546T>G
ENST00000646554.1:c.*518T>G ENSP00000494542.1:n.*518T>G
ENST00000647335.1:c.*507T>G ENSP00000495180.1:n.*507T>G
ENST00000647342.1:c.*471T>G ENSP00000494992.1:n.*471T>G
ENST00000256216.10:c.540T>G ENSP00000256216.6:p.Ile180Met
ENST00000414835.6:c.120T>G ENSP00000411960.2:p.Ile40Met
ENST00000442060.7:c.540T>G ENSP00000390208.3:p.Ile180Met
ENST00000503168.5:n.529T>G
ENST00000504811.5:c.615T>G ENSP00000420914.1:p.Ile205Met
ENST00000505181.5:n.243T>G
ENST00000508788.5:n.442T>G
ENST00000509514.5:c.-345T>G ENSP00000426272.1:n.-345T>G
ENST00000510025.5:c.468T>G ENSP00000424940.1:p.Ile156Met
ENST00000512644.1:n.108T>G
ENST00000513628.5:c.129T>G ENSP00000425993.1:p.Ile43Met
ENST00000515235.6:n.600T>G
ENST00000515320.5:c.486T>G ENSP00000424613.1:p.Ile162Met
NM_000414.3:c.540T>G NP_000405.1:p.Ile180Met
NM_001199291.2:c.615T>G NP_001186220.1:p.Ile205Met
NM_001199292.1:c.486T>G NP_001186221.1:p.Ile162Met
NM_001292027.1:c.468T>G NP_001278956.1:p.Ile156Met
NM_001292028.1:c.120T>G NP_001278957.1:p.Ile40Met
NM_000414.4:c.540T>G MANE Select NP_000405.1:p.Ile180Met
NM_001199291.3:c.615T>G NP_001186220.1:p.Ile205Met
NM_001199292.2:c.486T>G NP_001186221.1:p.Ile162Met
NM_001292027.2:c.468T>G NP_001278956.1:p.Ile156Met
NM_001292028.2:c.120T>G NP_001278957.1:p.Ile40Met
NM_001374497.1:c.531T>G NP_001361426.1:p.Ile177Met
NM_001374498.1:c.540T>G NP_001361427.1:p.Ile180Met
NM_001374499.1:c.213T>G NP_001361428.1:p.Ile71Met
NM_001374500.1:c.99T>G NP_001361429.1:p.Ile33Met
NM_001374501.1:c.129T>G NP_001361430.1:p.Ile43Met
NM_001374502.1:c.129T>G NP_001361431.1:p.Ile43Met
NM_001374503.1:c.129T>G NP_001361432.1:p.Ile43Met
NR_164653.1:n.619T>G
NR_164654.1:n.807T>G