Canonical Allele Identifier: CA3381978

Gene: HSD17B4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119493829C>T , CM000667.2:g.119493829C>T	GRCh38
NC_000005.9:g.118829524C>T , CM000667.1:g.118829524C>T	GRCh37
NC_000005.8:g.118857423C>T	NCBI36
NG_008182.1:g.46377C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000414.4:c.751C>T MANE Select	NP_000405.1:p.Arg251Trp
ENST00000510025.7:c.751C>T MANE Select	ENSP00000424940.3:p.Arg251Trp
NM_000414.3:c.751C>T	NP_000405.1:p.Arg251Trp
NM_001199291.2:c.826C>T	NP_001186220.1:p.Arg276Trp
NM_001199291.3:c.826C>T	NP_001186220.1:p.Arg276Trp
NM_001199292.1:c.697C>T	NP_001186221.1:p.Arg233Trp
NM_001199292.2:c.697C>T	NP_001186221.1:p.Arg233Trp
NM_001292027.1:c.679C>T	NP_001278956.1:p.Arg227Trp
NM_001292027.2:c.679C>T	NP_001278956.1:p.Arg227Trp
NM_001292028.1:c.331C>T	NP_001278957.1:p.Arg111Trp
NM_001292028.2:c.331C>T	NP_001278957.1:p.Arg111Trp
NM_001374497.1:c.742C>T	NP_001361426.1:p.Arg248Trp
NM_001374498.1:c.751C>T	NP_001361427.1:p.Arg251Trp
NM_001374499.1:c.424C>T	NP_001361428.1:p.Arg142Trp
NM_001374500.1:c.310C>T	NP_001361429.1:p.Arg104Trp
NM_001374501.1:c.340C>T	NP_001361430.1:p.Arg114Trp
NM_001374502.1:c.340C>T	NP_001361431.1:p.Arg114Trp
NM_001374503.1:c.340C>T	NP_001361432.1:p.Arg114Trp
NR_164653.1:n.848C>T
NR_164654.1:n.1018C>T
ENST00000256216.10:c.751C>T	ENSP00000256216.6:p.Arg251Trp
ENST00000414835.6:c.331C>T	ENSP00000411960.2:p.Arg111Trp
ENST00000414835.7:c.826C>T	ENSP00000411960.3:p.Arg276Trp
ENST00000442060.7:c.751C>T	ENSP00000390208.3:p.Arg251Trp
ENST00000504811.5:c.826C>T	ENSP00000420914.1:p.Arg276Trp
ENST00000509514.5:c.-134C>T	ENSP00000426272.1:n.-134C>T
ENST00000509514.6:c.751C>T	ENSP00000426272.2:p.Arg251Trp
ENST00000510025.5:c.679C>T	ENSP00000424940.1:p.Arg227Trp
ENST00000513628.5:c.340C>T	ENSP00000425993.1:p.Arg114Trp
ENST00000515235.6:n.2504C>T
ENST00000515320.5:c.697C>T	ENSP00000424613.1:p.Arg233Trp
ENST00000518349.6:c.113-2714C>T	ENSP00000507185.1:n.113-2714C>T
ENST00000520216.5:n.12C>T
ENST00000643250.1:c.*623C>T	ENSP00000494737.1:n.*623C>T
ENST00000644146.1:c.*2022C>T	ENSP00000494808.1:n.*2022C>T
ENST00000645099.1:c.310C>T	ENSP00000496091.1:p.Arg104Trp
ENST00000645702.1:c.*154C>T	ENSP00000496432.1:n.*154C>T
ENST00000645832.1:c.*636C>T	ENSP00000494316.1:n.*636C>T
ENST00000646058.1:c.751C>T	ENSP00000493579.1:p.Arg251Trp
ENST00000646355.1:c.*757C>T	ENSP00000493801.1:n.*757C>T
ENST00000646554.1:c.*729C>T	ENSP00000494542.1:n.*729C>T
ENST00000647335.1:c.*718C>T	ENSP00000495180.1:n.*718C>T
ENST00000647342.1:c.*682C>T	ENSP00000494992.1:n.*682C>T
ENST00000682445.1:c.*632C>T	ENSP00000508061.1:n.*632C>T
ENST00000682531.1:n.2545C>T
ENST00000682626.1:c.*257C>T	ENSP00000507857.1:n.*257C>T
ENST00000682996.1:c.751C>T	ENSP00000507792.1:p.Arg251Trp
ENST00000683265.1:n.2537C>T
ENST00000683371.1:c.*881C>T	ENSP00000508376.1:n.*881C>T
ENST00000683372.1:n.2761C>T
ENST00000683390.1:n.2441C>T
ENST00000683549.1:n.2365C>T
ENST00000683936.1:c.*2329C>T	ENSP00000507721.1:n.*2329C>T
ENST00000683974.1:n.2526C>T
ENST00000683996.1:c.340C>T	ENSP00000507060.1:p.Arg114Trp
ENST00000684131.1:n.2283C>T
ENST00000684160.1:c.*441C>T	ENSP00000507821.1:n.*441C>T
ENST00000684214.1:c.751C>T	ENSP00000508071.1:p.Arg251Trp