Canonical Allele Identifier: CA360864467

Gene: HSD17B4

Linked Data

• COSMIC: COSM3702672
• MyVariant Identifiers: chr5:g.118809682G>T (hg19) ; chr5:g.119473987G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119473987G>T , CM000667.2:g.119473987G>T	GRCh38
NC_000005.9:g.118809682G>T , CM000667.1:g.118809682G>T	GRCh37
NC_000005.8:g.118837581G>T	NCBI36
NG_008182.1:g.26535G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.192G>T	ENSP00000426272.2:p.Arg64Ser
ENST00000512841.6:n.233G>T
ENST00000518349.6:c.112+17619G>T	ENSP00000507185.1:n.112+17619G>T
ENST00000682445.1:c.*73G>T	ENSP00000508061.1:n.*73G>T
ENST00000682531.1:n.293G>T
ENST00000682626.1:c.267G>T	ENSP00000507857.1:p.Arg89Ser
ENST00000682996.1:c.192G>T	ENSP00000507792.1:p.Arg64Ser
ENST00000683265.1:n.285G>T
ENST00000683371.1:c.*322G>T	ENSP00000508376.1:n.*322G>T
ENST00000683390.1:n.240G>T
ENST00000683936.1:c.*77G>T	ENSP00000507721.1:n.*77G>T
ENST00000683974.1:n.274G>T
ENST00000684160.1:c.267G>T	ENSP00000507821.1:p.Arg89Ser
ENST00000684214.1:c.192G>T	ENSP00000508071.1:p.Arg64Ser
ENST00000414835.7:c.267G>T	ENSP00000411960.3:p.Arg89Ser
ENST00000510025.7:c.192G>T MANE Select	ENSP00000424940.3:p.Arg64Ser
ENST00000643250.1:c.*73G>T	ENSP00000494737.1:n.*73G>T
ENST00000644146.1:c.192G>T	ENSP00000494808.1:p.Arg64Ser
ENST00000645832.1:c.*77G>T	ENSP00000494316.1:n.*77G>T
ENST00000646058.1:c.192G>T	ENSP00000493579.1:p.Arg64Ser
ENST00000646355.1:c.*198G>T	ENSP00000493801.1:n.*198G>T
ENST00000646554.1:c.*73G>T	ENSP00000494542.1:n.*73G>T
ENST00000646590.1:c.192G>T	ENSP00000494892.1:p.Arg64Ser
ENST00000647335.1:c.*159G>T	ENSP00000495180.1:n.*159G>T
ENST00000647342.1:c.*73G>T	ENSP00000494992.1:n.*73G>T
ENST00000256216.10:c.192G>T	ENSP00000256216.6:p.Arg64Ser
ENST00000414835.6:c.-220G>T	ENSP00000411960.2:n.-220G>T
ENST00000442060.7:c.192G>T	ENSP00000390208.3:p.Arg64Ser
ENST00000503168.5:n.181G>T
ENST00000504811.5:c.267G>T	ENSP00000420914.1:p.Arg89Ser
ENST00000507695.1:n.136G>T
ENST00000510025.5:c.120G>T	ENSP00000424940.1:p.Arg40Ser
ENST00000511186.5:n.295G>T
ENST00000512841.5:n.240G>T
ENST00000515235.6:n.252G>T
ENST00000515320.5:c.138G>T	ENSP00000424613.1:p.Arg46Ser
NM_000414.3:c.192G>T	NP_000405.1:p.Arg64Ser
NM_001199291.2:c.267G>T	NP_001186220.1:p.Arg89Ser
NM_001199292.1:c.138G>T	NP_001186221.1:p.Arg46Ser
NM_001292027.1:c.120G>T	NP_001278956.1:p.Arg40Ser
NM_001292028.1:c.-220G>T	NP_001278957.1:n.-220G>T
NM_000414.4:c.192G>T MANE Select	NP_000405.1:p.Arg64Ser
NM_001199291.3:c.267G>T	NP_001186220.1:p.Arg89Ser
NM_001199292.2:c.138G>T	NP_001186221.1:p.Arg46Ser
NM_001292027.2:c.120G>T	NP_001278956.1:p.Arg40Ser
NM_001292028.2:c.-220G>T	NP_001278957.1:n.-220G>T
NM_001374497.1:c.192G>T	NP_001361426.1:p.Arg64Ser
NM_001374498.1:c.192G>T	NP_001361427.1:p.Arg64Ser
NM_001374499.1:c.-89G>T	NP_001361428.1:n.-89G>T
NM_001374500.1:c.-347G>T	NP_001361429.1:n.-347G>T
NM_001374501.1:c.-220G>T	NP_001361430.1:n.-220G>T
NM_001374502.1:c.-225G>T	NP_001361431.1:n.-225G>T
NM_001374503.1:c.-225G>T	NP_001361432.1:n.-225G>T
NR_164653.1:n.271G>T
NR_164654.1:n.459G>T