Canonical Allele Identifier: CA3382508
Community Standard Title: NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119536545C>T , CM000667.2:g.119536545C>T GRCh38
NC_000005.9:g.118872240C>T , CM000667.1:g.118872240C>T GRCh37
NC_000005.8:g.118900139C>T NCBI36
NG_008182.1:g.89093C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.2116C>T MANE Select NP_000405.1:p.Gln706Ter
ENST00000510025.7:c.2116C>T MANE Select ENSP00000424940.3:p.Gln706Ter
NM_000414.3:c.2116C>T NP_000405.1:p.Gln706Ter
NM_001199291.2:c.2191C>T NP_001186220.1:p.Gln731Ter
NM_001199291.3:c.2191C>T NP_001186220.1:p.Gln731Ter
NM_001199292.1:c.2062C>T NP_001186221.1:p.Gln688Ter
NM_001199292.2:c.2062C>T NP_001186221.1:p.Gln688Ter
NM_001292027.1:c.2044C>T NP_001278956.1:p.Gln682Ter
NM_001292027.2:c.2044C>T NP_001278956.1:p.Gln682Ter
NM_001292028.1:c.1696C>T NP_001278957.1:p.Gln566Ter
NM_001292028.2:c.1696C>T NP_001278957.1:p.Gln566Ter
NM_001374497.1:c.2107C>T NP_001361426.1:p.Gln703Ter
NM_001374498.1:c.2044C>T NP_001361427.1:p.Gln682Ter
NM_001374499.1:c.1789C>T NP_001361428.1:p.Gln597Ter
NM_001374500.1:c.1675C>T NP_001361429.1:p.Gln559Ter
NM_001374501.1:c.1705C>T NP_001361430.1:p.Gln569Ter
NM_001374502.1:c.1705C>T NP_001361431.1:p.Gln569Ter
NM_001374503.1:c.1705C>T NP_001361432.1:p.Gln569Ter
NR_164653.1:n.2213C>T
NR_164654.1:n.2481C>T
ENST00000256216.10:c.2116C>T ENSP00000256216.6:p.Gln706Ter
ENST00000414835.6:c.1696C>T ENSP00000411960.2:p.Gln566Ter
ENST00000414835.7:c.2191C>T ENSP00000411960.3:p.Gln731Ter
ENST00000442060.7:c.*671C>T ENSP00000390208.3:n.*671C>T
ENST00000503310.1:n.776C>T
ENST00000504811.5:c.2191C>T ENSP00000420914.1:p.Gln731Ter
ENST00000509514.5:c.1330C>T ENSP00000426272.1:p.Gln444Ter
ENST00000509514.6:c.2047C>T ENSP00000426272.2:p.Gln683Ter
ENST00000509606.1:n.411C>T
ENST00000509951.5:n.310-5360C>T
ENST00000510025.5:c.2044C>T ENSP00000424940.1:p.Gln682Ter
ENST00000513628.5:c.1705C>T ENSP00000425993.1:p.Gln569Ter
ENST00000515235.6:n.3869C>T
ENST00000515320.5:c.2062C>T ENSP00000424613.1:p.Gln688Ter
ENST00000518349.6:c.1360C>T ENSP00000507185.1:p.Gln454Ter
ENST00000522415.5:n.783C>T
ENST00000643250.1:c.*1988C>T ENSP00000494737.1:n.*1988C>T
ENST00000643897.1:c.108C>T
ENST00000644146.1:c.*3387C>T ENSP00000494808.1:n.*3387C>T
ENST00000645099.1:c.1675C>T ENSP00000496091.1:p.Gln559Ter
ENST00000645702.1:c.*1519C>T ENSP00000496432.1:n.*1519C>T
ENST00000645832.1:c.*2001C>T ENSP00000494316.1:n.*2001C>T
ENST00000646058.1:c.2116C>T ENSP00000493579.1:p.Gln706Ter
ENST00000646355.1:c.*2122C>T ENSP00000493801.1:n.*2122C>T
ENST00000646554.1:c.*2094C>T ENSP00000494542.1:n.*2094C>T
ENST00000647335.1:c.*2083C>T ENSP00000495180.1:n.*2083C>T
ENST00000647342.1:c.*2047C>T ENSP00000494992.1:n.*2047C>T
ENST00000682445.1:c.*1997C>T ENSP00000508061.1:n.*1997C>T
ENST00000682531.1:n.4008C>T
ENST00000682626.1:c.*1622C>T ENSP00000507857.1:n.*1622C>T
ENST00000682996.1:c.2044C>T ENSP00000507792.1:p.Gln682Ter
ENST00000683265.1:n.3902C>T
ENST00000683335.1:n.3518C>T
ENST00000683371.1:c.*2246C>T ENSP00000508376.1:n.*2246C>T
ENST00000683372.1:n.4126C>T
ENST00000683390.1:n.8824C>T
ENST00000683476.1:n.958C>T
ENST00000683549.1:n.3730C>T
ENST00000683936.1:c.*3694C>T ENSP00000507721.1:n.*3694C>T
ENST00000683974.1:n.3845C>T
ENST00000683996.1:c.*1326C>T ENSP00000507060.1:n.*1326C>T
ENST00000684131.1:n.3648C>T
ENST00000684160.1:c.*1806C>T ENSP00000507821.1:n.*1806C>T
ENST00000684214.1:c.*111C>T ENSP00000508071.1:n.*111C>T