Canonical Allele Identifier: CA360866242

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814614C>G (hg19) ; chr5:g.119478919C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478919C>G , CM000667.2:g.119478919C>G	GRCh38
NC_000005.9:g.118814614C>G , CM000667.1:g.118814614C>G	GRCh37
NC_000005.8:g.118842513C>G	NCBI36
NG_008182.1:g.31467C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.520C>G	ENSP00000426272.2:p.Leu174Val
ENST00000518349.6:c.113-17624C>G	ENSP00000507185.1:n.113-17624C>G
ENST00000682445.1:c.*401C>G	ENSP00000508061.1:n.*401C>G
ENST00000682531.1:n.621C>G
ENST00000682626.1:c.*26C>G	ENSP00000507857.1:n.*26C>G
ENST00000682996.1:c.520C>G	ENSP00000507792.1:p.Leu174Val
ENST00000683265.1:n.613C>G
ENST00000683371.1:c.*650C>G	ENSP00000508376.1:n.*650C>G
ENST00000683390.1:n.2210C>G
ENST00000683549.1:n.441C>G
ENST00000683936.1:c.*405C>G	ENSP00000507721.1:n.*405C>G
ENST00000683974.1:n.602C>G
ENST00000683996.1:c.109C>G	ENSP00000507060.1:p.Leu37Val
ENST00000684131.1:n.359C>G
ENST00000684160.1:c.*210C>G	ENSP00000507821.1:n.*210C>G
ENST00000684214.1:c.520C>G	ENSP00000508071.1:p.Leu174Val
ENST00000414835.7:c.595C>G	ENSP00000411960.3:p.Leu199Val
ENST00000510025.7:c.520C>G MANE Select	ENSP00000424940.3:p.Leu174Val
ENST00000643250.1:c.*392C>G	ENSP00000494737.1:n.*392C>G
ENST00000644146.1:c.*98C>G	ENSP00000494808.1:n.*98C>G
ENST00000645099.1:c.79C>G	ENSP00000496091.1:p.Leu27Val
ENST00000645702.1:c.109C>G	ENSP00000496432.1:p.Leu37Val
ENST00000645832.1:c.*405C>G	ENSP00000494316.1:n.*405C>G
ENST00000646058.1:c.520C>G	ENSP00000493579.1:p.Leu174Val
ENST00000646355.1:c.*526C>G	ENSP00000493801.1:n.*526C>G
ENST00000646554.1:c.*498C>G	ENSP00000494542.1:n.*498C>G
ENST00000647335.1:c.*487C>G	ENSP00000495180.1:n.*487C>G
ENST00000647342.1:c.*451C>G	ENSP00000494992.1:n.*451C>G
ENST00000256216.10:c.520C>G	ENSP00000256216.6:p.Leu174Val
ENST00000414835.6:c.100C>G	ENSP00000411960.2:p.Leu34Val
ENST00000442060.7:c.520C>G	ENSP00000390208.3:p.Leu174Val
ENST00000503168.5:n.509C>G
ENST00000504811.5:c.595C>G	ENSP00000420914.1:p.Leu199Val
ENST00000505181.5:n.223C>G
ENST00000508788.5:n.422C>G
ENST00000509514.5:c.-365C>G	ENSP00000426272.1:n.-365C>G
ENST00000510025.5:c.448C>G	ENSP00000424940.1:p.Leu150Val
ENST00000512644.1:n.88C>G
ENST00000512841.5:n.568C>G
ENST00000513628.5:c.109C>G	ENSP00000425993.1:p.Leu37Val
ENST00000515235.6:n.580C>G
ENST00000515320.5:c.466C>G	ENSP00000424613.1:p.Leu156Val
NM_000414.3:c.520C>G	NP_000405.1:p.Leu174Val
NM_001199291.2:c.595C>G	NP_001186220.1:p.Leu199Val
NM_001199292.1:c.466C>G	NP_001186221.1:p.Leu156Val
NM_001292027.1:c.448C>G	NP_001278956.1:p.Leu150Val
NM_001292028.1:c.100C>G	NP_001278957.1:p.Leu34Val
NM_000414.4:c.520C>G MANE Select	NP_000405.1:p.Leu174Val
NM_001199291.3:c.595C>G	NP_001186220.1:p.Leu199Val
NM_001199292.2:c.466C>G	NP_001186221.1:p.Leu156Val
NM_001292027.2:c.448C>G	NP_001278956.1:p.Leu150Val
NM_001292028.2:c.100C>G	NP_001278957.1:p.Leu34Val
NM_001374497.1:c.511C>G	NP_001361426.1:p.Leu171Val
NM_001374498.1:c.520C>G	NP_001361427.1:p.Leu174Val
NM_001374499.1:c.193C>G	NP_001361428.1:p.Leu65Val
NM_001374500.1:c.79C>G	NP_001361429.1:p.Leu27Val
NM_001374501.1:c.109C>G	NP_001361430.1:p.Leu37Val
NM_001374502.1:c.109C>G	NP_001361431.1:p.Leu37Val
NM_001374503.1:c.109C>G	NP_001361432.1:p.Leu37Val
NR_164653.1:n.599C>G
NR_164654.1:n.787C>G