Canonical Allele Identifier: CA3381977

Gene: HSD17B4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119493821G>A , CM000667.2:g.119493821G>A	GRCh38
NC_000005.9:g.118829516G>A , CM000667.1:g.118829516G>A	GRCh37
NC_000005.8:g.118857415G>A	NCBI36
NG_008182.1:g.46369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.743G>A	ENSP00000426272.2:p.Arg248His
ENST00000518349.6:c.113-2722G>A	ENSP00000507185.1:n.113-2722G>A
ENST00000682445.1:c.*624G>A	ENSP00000508061.1:n.*624G>A
ENST00000682531.1:n.2537G>A
ENST00000682626.1:c.*249G>A	ENSP00000507857.1:n.*249G>A
ENST00000682996.1:c.743G>A	ENSP00000507792.1:p.Arg248His
ENST00000683265.1:n.2529G>A
ENST00000683371.1:c.*873G>A	ENSP00000508376.1:n.*873G>A
ENST00000683372.1:n.2753G>A
ENST00000683390.1:n.2433G>A
ENST00000683549.1:n.2357G>A
ENST00000683936.1:c.*2321G>A	ENSP00000507721.1:n.*2321G>A
ENST00000683974.1:n.2518G>A
ENST00000683996.1:c.332G>A	ENSP00000507060.1:p.Arg111His
ENST00000684131.1:n.2275G>A
ENST00000684160.1:c.*433G>A	ENSP00000507821.1:n.*433G>A
ENST00000684214.1:c.743G>A	ENSP00000508071.1:p.Arg248His
ENST00000414835.7:c.818G>A	ENSP00000411960.3:p.Arg273His
ENST00000510025.7:c.743G>A MANE Select	ENSP00000424940.3:p.Arg248His
ENST00000643250.1:c.*615G>A	ENSP00000494737.1:n.*615G>A
ENST00000644146.1:c.*2014G>A	ENSP00000494808.1:n.*2014G>A
ENST00000645099.1:c.302G>A	ENSP00000496091.1:p.Arg101His
ENST00000645702.1:c.*146G>A	ENSP00000496432.1:n.*146G>A
ENST00000645832.1:c.*628G>A	ENSP00000494316.1:n.*628G>A
ENST00000646058.1:c.743G>A	ENSP00000493579.1:p.Arg248His
ENST00000646355.1:c.*749G>A	ENSP00000493801.1:n.*749G>A
ENST00000646554.1:c.*721G>A	ENSP00000494542.1:n.*721G>A
ENST00000647335.1:c.*710G>A	ENSP00000495180.1:n.*710G>A
ENST00000647342.1:c.*674G>A	ENSP00000494992.1:n.*674G>A
ENST00000256216.10:c.743G>A	ENSP00000256216.6:p.Arg248His
ENST00000414835.6:c.323G>A	ENSP00000411960.2:p.Arg108His
ENST00000442060.7:c.743G>A	ENSP00000390208.3:p.Arg248His
ENST00000504811.5:c.818G>A	ENSP00000420914.1:p.Arg273His
ENST00000509514.5:c.-142G>A	ENSP00000426272.1:n.-142G>A
ENST00000510025.5:c.671G>A	ENSP00000424940.1:p.Arg224His
ENST00000513628.5:c.332G>A	ENSP00000425993.1:p.Arg111His
ENST00000515235.6:n.2496G>A
ENST00000515320.5:c.689G>A	ENSP00000424613.1:p.Arg230His
ENST00000520216.5:n.4G>A
NM_000414.3:c.743G>A	NP_000405.1:p.Arg248His
NM_001199291.2:c.818G>A	NP_001186220.1:p.Arg273His
NM_001199292.1:c.689G>A	NP_001186221.1:p.Arg230His
NM_001292027.1:c.671G>A	NP_001278956.1:p.Arg224His
NM_001292028.1:c.323G>A	NP_001278957.1:p.Arg108His
NM_000414.4:c.743G>A MANE Select	NP_000405.1:p.Arg248His
NM_001199291.3:c.818G>A	NP_001186220.1:p.Arg273His
NM_001199292.2:c.689G>A	NP_001186221.1:p.Arg230His
NM_001292027.2:c.671G>A	NP_001278956.1:p.Arg224His
NM_001292028.2:c.323G>A	NP_001278957.1:p.Arg108His
NM_001374497.1:c.734G>A	NP_001361426.1:p.Arg245His
NM_001374498.1:c.743G>A	NP_001361427.1:p.Arg248His
NM_001374499.1:c.416G>A	NP_001361428.1:p.Arg139His
NM_001374500.1:c.302G>A	NP_001361429.1:p.Arg101His
NM_001374501.1:c.332G>A	NP_001361430.1:p.Arg111His
NM_001374502.1:c.332G>A	NP_001361431.1:p.Arg111His
NM_001374503.1:c.332G>A	NP_001361432.1:p.Arg111His
NR_164653.1:n.840G>A
NR_164654.1:n.1010G>A