Canonical Allele Identifier: CA3382302
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119525243T>C , CM000667.2:g.119525243T>C GRCh38
NC_000005.9:g.118860938T>C , CM000667.1:g.118860938T>C GRCh37
NC_000005.8:g.118888837T>C NCBI36
NG_008182.1:g.77791T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.1462T>C ENSP00000426272.2:p.Trp488Arg
ENST00000518349.6:c.775T>C ENSP00000507185.1:p.Trp259Arg
ENST00000520244.6:n.3269T>C
ENST00000682445.1:c.*1412T>C ENSP00000508061.1:n.*1412T>C
ENST00000682531.1:n.3423T>C
ENST00000682626.1:c.*1037T>C ENSP00000507857.1:n.*1037T>C
ENST00000682996.1:c.1459T>C ENSP00000507792.1:p.Trp487Arg
ENST00000683265.1:n.3317T>C
ENST00000683335.1:n.2933T>C
ENST00000683371.1:c.*1661T>C ENSP00000508376.1:n.*1661T>C
ENST00000683372.1:n.3541T>C
ENST00000683390.1:n.3221T>C
ENST00000683476.1:n.373T>C
ENST00000683549.1:n.3145T>C
ENST00000683936.1:c.*3109T>C ENSP00000507721.1:n.*3109T>C
ENST00000683974.1:n.3260T>C
ENST00000683996.1:c.*741T>C ENSP00000507060.1:n.*741T>C
ENST00000684131.1:n.3063T>C
ENST00000684160.1:c.*1221T>C ENSP00000507821.1:n.*1221T>C
ENST00000684214.1:c.1531T>C ENSP00000508071.1:p.Trp511Arg
ENST00000414835.7:c.1606T>C ENSP00000411960.3:p.Trp536Arg
ENST00000510025.7:c.1531T>C MANE Select ENSP00000424940.3:p.Trp511Arg
ENST00000643250.1:c.*1403T>C ENSP00000494737.1:n.*1403T>C
ENST00000644146.1:c.*2802T>C ENSP00000494808.1:n.*2802T>C
ENST00000645099.1:c.1090T>C ENSP00000496091.1:p.Trp364Arg
ENST00000645702.1:c.*934T>C ENSP00000496432.1:n.*934T>C
ENST00000645832.1:c.*1416T>C ENSP00000494316.1:n.*1416T>C
ENST00000646058.1:c.1531T>C ENSP00000493579.1:p.Trp511Arg
ENST00000646355.1:c.*1537T>C ENSP00000493801.1:n.*1537T>C
ENST00000646554.1:c.*1509T>C ENSP00000494542.1:n.*1509T>C
ENST00000647335.1:c.*1498T>C ENSP00000495180.1:n.*1498T>C
ENST00000647342.1:c.*1462T>C ENSP00000494992.1:n.*1462T>C
ENST00000256216.10:c.1531T>C ENSP00000256216.6:p.Trp511Arg
ENST00000414835.6:c.1111T>C ENSP00000411960.2:p.Trp371Arg
ENST00000442060.7:c.*93T>C ENSP00000390208.3:n.*93T>C
ENST00000504811.5:c.1606T>C ENSP00000420914.1:p.Trp536Arg
ENST00000509514.5:c.745T>C ENSP00000426272.1:p.Trp249Arg
ENST00000510025.5:c.1459T>C ENSP00000424940.1:p.Trp487Arg
ENST00000513628.5:c.1120T>C ENSP00000425993.1:p.Trp374Arg
ENST00000515235.6:n.3284T>C
ENST00000515320.5:c.1477T>C ENSP00000424613.1:p.Trp493Arg
ENST00000518349.5:n.665T>C
ENST00000520244.5:n.314T>C
ENST00000522415.5:n.198T>C
NM_000414.3:c.1531T>C NP_000405.1:p.Trp511Arg
NM_001199291.2:c.1606T>C NP_001186220.1:p.Trp536Arg
NM_001199292.1:c.1477T>C NP_001186221.1:p.Trp493Arg
NM_001292027.1:c.1459T>C NP_001278956.1:p.Trp487Arg
NM_001292028.1:c.1111T>C NP_001278957.1:p.Trp371Arg
NM_000414.4:c.1531T>C MANE Select NP_000405.1:p.Trp511Arg
NM_001199291.3:c.1606T>C NP_001186220.1:p.Trp536Arg
NM_001199292.2:c.1477T>C NP_001186221.1:p.Trp493Arg
NM_001292027.2:c.1459T>C NP_001278956.1:p.Trp487Arg
NM_001292028.2:c.1111T>C NP_001278957.1:p.Trp371Arg
NM_001374497.1:c.1522T>C NP_001361426.1:p.Trp508Arg
NM_001374498.1:c.1459T>C NP_001361427.1:p.Trp487Arg
NM_001374499.1:c.1204T>C NP_001361428.1:p.Trp402Arg
NM_001374500.1:c.1090T>C NP_001361429.1:p.Trp364Arg
NM_001374501.1:c.1120T>C NP_001361430.1:p.Trp374Arg
NM_001374502.1:c.1120T>C NP_001361431.1:p.Trp374Arg
NM_001374503.1:c.1120T>C NP_001361432.1:p.Trp374Arg
NR_164653.1:n.1628T>C
NR_164654.1:n.1896T>C