Canonical Allele Identifier: CA1577010966
Community Standard Title: NM_000414.4(HSD17B4):c.742C= (p.Arg248=)
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119493820C= , CM000667.2:g.119493820C= GRCh38
NC_000005.9:g.118829515C= , CM000667.1:g.118829515C= GRCh37
NC_000005.8:g.118857414C= NCBI36
NG_008182.1:g.46368C=

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.742C= MANE Select NP_000405.1:p.Arg248=
ENST00000510025.7:c.742C= MANE Select ENSP00000424940.3:p.Arg248=
NM_000414.3:c.742C= NP_000405.1:p.Arg248=
NM_001199291.2:c.817C= NP_001186220.1:p.Arg273=
NM_001199291.3:c.817C= NP_001186220.1:p.Arg273=
NM_001199292.1:c.688C= NP_001186221.1:p.Arg230=
NM_001199292.2:c.688C= NP_001186221.1:p.Arg230=
NM_001292027.1:c.670C= NP_001278956.1:p.Arg224=
NM_001292027.2:c.670C= NP_001278956.1:p.Arg224=
NM_001292028.1:c.322C= NP_001278957.1:p.Arg108=
NM_001292028.2:c.322C= NP_001278957.1:p.Arg108=
NM_001374497.1:c.733C= NP_001361426.1:p.Arg245=
NM_001374498.1:c.742C= NP_001361427.1:p.Arg248=
NM_001374499.1:c.415C= NP_001361428.1:p.Arg139=
NM_001374500.1:c.301C= NP_001361429.1:p.Arg101=
NM_001374501.1:c.331C= NP_001361430.1:p.Arg111=
NM_001374502.1:c.331C= NP_001361431.1:p.Arg111=
NM_001374503.1:c.331C= NP_001361432.1:p.Arg111=
NR_164653.1:n.839C=
NR_164654.1:n.1009C=
ENST00000256216.10:c.742C= ENSP00000256216.6:p.Arg248=
ENST00000414835.6:c.322C= ENSP00000411960.2:p.Arg108=
ENST00000414835.7:c.817C= ENSP00000411960.3:p.Arg273=
ENST00000442060.7:c.742C= ENSP00000390208.3:p.Arg248=
ENST00000504811.5:c.817C= ENSP00000420914.1:p.Arg273=
ENST00000509514.5:c.-143C= ENSP00000426272.1:n.-143C=
ENST00000509514.6:c.742C= ENSP00000426272.2:p.Arg248=
ENST00000510025.5:c.670C= ENSP00000424940.1:p.Arg224=
ENST00000513628.5:c.331C= ENSP00000425993.1:p.Arg111=
ENST00000515235.6:n.2495C=
ENST00000515320.5:c.688C= ENSP00000424613.1:p.Arg230=
ENST00000518349.6:c.113-2723C= ENSP00000507185.1:n.113-2723C=
ENST00000520216.5:n.3C=
ENST00000643250.1:c.*614C= ENSP00000494737.1:n.*614C=
ENST00000644146.1:c.*2013C= ENSP00000494808.1:n.*2013C=
ENST00000645099.1:c.301C= ENSP00000496091.1:p.Arg101=
ENST00000645702.1:c.*145C= ENSP00000496432.1:n.*145C=
ENST00000645832.1:c.*627C= ENSP00000494316.1:n.*627C=
ENST00000646058.1:c.742C= ENSP00000493579.1:p.Arg248=
ENST00000646355.1:c.*748C= ENSP00000493801.1:n.*748C=
ENST00000646554.1:c.*720C= ENSP00000494542.1:n.*720C=
ENST00000647335.1:c.*709C= ENSP00000495180.1:n.*709C=
ENST00000647342.1:c.*673C= ENSP00000494992.1:n.*673C=
ENST00000682445.1:c.*623C= ENSP00000508061.1:n.*623C=
ENST00000682531.1:n.2536C=
ENST00000682626.1:c.*248C= ENSP00000507857.1:n.*248C=
ENST00000682996.1:c.742C= ENSP00000507792.1:p.Arg248=
ENST00000683265.1:n.2528C=
ENST00000683371.1:c.*872C= ENSP00000508376.1:n.*872C=
ENST00000683372.1:n.2752C=
ENST00000683390.1:n.2432C=
ENST00000683549.1:n.2356C=
ENST00000683936.1:c.*2320C= ENSP00000507721.1:n.*2320C=
ENST00000683974.1:n.2517C=
ENST00000683996.1:c.331C= ENSP00000507060.1:p.Arg111=
ENST00000684131.1:n.2274C=
ENST00000684160.1:c.*432C= ENSP00000507821.1:n.*432C=
ENST00000684214.1:c.742C= ENSP00000508071.1:p.Arg248=