Canonical Allele Identifier: CA360867420

Gene: HSD17B4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119493943C>T , CM000667.2:g.119493943C>T	GRCh38
NC_000005.9:g.118829638C>T , CM000667.1:g.118829638C>T	GRCh37
NC_000005.8:g.118857537C>T	NCBI36
NG_008182.1:g.46491C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000414.4:c.865C>T MANE Select	NP_000405.1:p.Gln289Ter
ENST00000510025.7:c.865C>T MANE Select	ENSP00000424940.3:p.Gln289Ter
NM_000414.3:c.865C>T	NP_000405.1:p.Gln289Ter
NM_001199291.2:c.940C>T	NP_001186220.1:p.Gln314Ter
NM_001199291.3:c.940C>T	NP_001186220.1:p.Gln314Ter
NM_001199292.1:c.811C>T	NP_001186221.1:p.Gln271Ter
NM_001199292.2:c.811C>T	NP_001186221.1:p.Gln271Ter
NM_001292027.1:c.793C>T	NP_001278956.1:p.Gln265Ter
NM_001292027.2:c.793C>T	NP_001278956.1:p.Gln265Ter
NM_001292028.1:c.445C>T	NP_001278957.1:p.Gln149Ter
NM_001292028.2:c.445C>T	NP_001278957.1:p.Gln149Ter
NM_001374497.1:c.856C>T	NP_001361426.1:p.Gln286Ter
NM_001374498.1:c.865C>T	NP_001361427.1:p.Gln289Ter
NM_001374499.1:c.538C>T	NP_001361428.1:p.Gln180Ter
NM_001374500.1:c.424C>T	NP_001361429.1:p.Gln142Ter
NM_001374501.1:c.454C>T	NP_001361430.1:p.Gln152Ter
NM_001374502.1:c.454C>T	NP_001361431.1:p.Gln152Ter
NM_001374503.1:c.454C>T	NP_001361432.1:p.Gln152Ter
NR_164653.1:n.962C>T
NR_164654.1:n.1132C>T
ENST00000256216.10:c.865C>T	ENSP00000256216.6:p.Gln289Ter
ENST00000414835.6:c.445C>T	ENSP00000411960.2:p.Gln149Ter
ENST00000414835.7:c.940C>T	ENSP00000411960.3:p.Gln314Ter
ENST00000442060.7:c.865C>T	ENSP00000390208.3:p.Gln289Ter
ENST00000504811.5:c.940C>T	ENSP00000420914.1:p.Gln314Ter
ENST00000509514.5:c.-20C>T	ENSP00000426272.1:n.-20C>T
ENST00000509514.6:c.865C>T	ENSP00000426272.2:p.Gln289Ter
ENST00000510025.5:c.793C>T	ENSP00000424940.1:p.Gln265Ter
ENST00000513628.5:c.454C>T	ENSP00000425993.1:p.Gln152Ter
ENST00000515235.6:n.2618C>T
ENST00000515320.5:c.811C>T	ENSP00000424613.1:p.Gln271Ter
ENST00000518349.6:c.113-2600C>T	ENSP00000507185.1:n.113-2600C>T
ENST00000520216.5:n.126C>T
ENST00000643250.1:c.*737C>T	ENSP00000494737.1:n.*737C>T
ENST00000644146.1:c.*2136C>T	ENSP00000494808.1:n.*2136C>T
ENST00000645099.1:c.424C>T	ENSP00000496091.1:p.Gln142Ter
ENST00000645702.1:c.*268C>T	ENSP00000496432.1:n.*268C>T
ENST00000645832.1:c.*750C>T	ENSP00000494316.1:n.*750C>T
ENST00000646058.1:c.865C>T	ENSP00000493579.1:p.Gln289Ter
ENST00000646355.1:c.*871C>T	ENSP00000493801.1:n.*871C>T
ENST00000646554.1:c.*843C>T	ENSP00000494542.1:n.*843C>T
ENST00000647335.1:c.*832C>T	ENSP00000495180.1:n.*832C>T
ENST00000647342.1:c.*796C>T	ENSP00000494992.1:n.*796C>T
ENST00000682445.1:c.*746C>T	ENSP00000508061.1:n.*746C>T
ENST00000682531.1:n.2659C>T
ENST00000682626.1:c.*371C>T	ENSP00000507857.1:n.*371C>T
ENST00000682996.1:c.865C>T	ENSP00000507792.1:p.Gln289Ter
ENST00000683265.1:n.2651C>T
ENST00000683371.1:c.*995C>T	ENSP00000508376.1:n.*995C>T
ENST00000683372.1:n.2875C>T
ENST00000683390.1:n.2555C>T
ENST00000683549.1:n.2479C>T
ENST00000683936.1:c.*2443C>T	ENSP00000507721.1:n.*2443C>T
ENST00000683974.1:n.2640C>T
ENST00000683996.1:c.454C>T	ENSP00000507060.1:p.Gln152Ter
ENST00000684131.1:n.2397C>T
ENST00000684160.1:c.*555C>T	ENSP00000507821.1:n.*555C>T
ENST00000684214.1:c.865C>T	ENSP00000508071.1:p.Gln289Ter