Canonical Allele Identifier: CA360866285

Gene: HSD17B4

Linked Data

• COSMIC: COSM6322724
• MyVariant Identifiers: chr5:g.118814635G>T (hg19) ; chr5:g.119478940G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478940G>T , CM000667.2:g.119478940G>T	GRCh38
NC_000005.9:g.118814635G>T , CM000667.1:g.118814635G>T	GRCh37
NC_000005.8:g.118842534G>T	NCBI36
NG_008182.1:g.31488G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.541G>T	ENSP00000426272.2:p.Glu181Ter
ENST00000518349.6:c.113-17603G>T	ENSP00000507185.1:n.113-17603G>T
ENST00000682445.1:c.*422G>T	ENSP00000508061.1:n.*422G>T
ENST00000682531.1:n.642G>T
ENST00000682626.1:c.*47G>T	ENSP00000507857.1:n.*47G>T
ENST00000682996.1:c.541G>T	ENSP00000507792.1:p.Glu181Ter
ENST00000683265.1:n.634G>T
ENST00000683371.1:c.*671G>T	ENSP00000508376.1:n.*671G>T
ENST00000683390.1:n.2231G>T
ENST00000683549.1:n.462G>T
ENST00000683936.1:c.*426G>T	ENSP00000507721.1:n.*426G>T
ENST00000683974.1:n.623G>T
ENST00000683996.1:c.130G>T	ENSP00000507060.1:p.Glu44Ter
ENST00000684131.1:n.380G>T
ENST00000684160.1:c.*231G>T	ENSP00000507821.1:n.*231G>T
ENST00000684214.1:c.541G>T	ENSP00000508071.1:p.Glu181Ter
ENST00000414835.7:c.616G>T	ENSP00000411960.3:p.Glu206Ter
ENST00000510025.7:c.541G>T MANE Select	ENSP00000424940.3:p.Glu181Ter
ENST00000643250.1:c.*413G>T	ENSP00000494737.1:n.*413G>T
ENST00000644146.1:c.*119G>T	ENSP00000494808.1:n.*119G>T
ENST00000645099.1:c.100G>T	ENSP00000496091.1:p.Glu34Ter
ENST00000645702.1:c.130G>T	ENSP00000496432.1:p.Glu44Ter
ENST00000645832.1:c.*426G>T	ENSP00000494316.1:n.*426G>T
ENST00000646058.1:c.541G>T	ENSP00000493579.1:p.Glu181Ter
ENST00000646355.1:c.*547G>T	ENSP00000493801.1:n.*547G>T
ENST00000646554.1:c.*519G>T	ENSP00000494542.1:n.*519G>T
ENST00000647335.1:c.*508G>T	ENSP00000495180.1:n.*508G>T
ENST00000647342.1:c.*472G>T	ENSP00000494992.1:n.*472G>T
ENST00000256216.10:c.541G>T	ENSP00000256216.6:p.Glu181Ter
ENST00000414835.6:c.121G>T	ENSP00000411960.2:p.Glu41Ter
ENST00000442060.7:c.541G>T	ENSP00000390208.3:p.Glu181Ter
ENST00000503168.5:n.530G>T
ENST00000504811.5:c.616G>T	ENSP00000420914.1:p.Glu206Ter
ENST00000505181.5:n.244G>T
ENST00000508788.5:n.443G>T
ENST00000509514.5:c.-344G>T	ENSP00000426272.1:n.-344G>T
ENST00000510025.5:c.469G>T	ENSP00000424940.1:p.Glu157Ter
ENST00000512644.1:n.109G>T
ENST00000513628.5:c.130G>T	ENSP00000425993.1:p.Glu44Ter
ENST00000515235.6:n.601G>T
ENST00000515320.5:c.487G>T	ENSP00000424613.1:p.Glu163Ter
NM_000414.3:c.541G>T	NP_000405.1:p.Glu181Ter
NM_001199291.2:c.616G>T	NP_001186220.1:p.Glu206Ter
NM_001199292.1:c.487G>T	NP_001186221.1:p.Glu163Ter
NM_001292027.1:c.469G>T	NP_001278956.1:p.Glu157Ter
NM_001292028.1:c.121G>T	NP_001278957.1:p.Glu41Ter
NM_000414.4:c.541G>T MANE Select	NP_000405.1:p.Glu181Ter
NM_001199291.3:c.616G>T	NP_001186220.1:p.Glu206Ter
NM_001199292.2:c.487G>T	NP_001186221.1:p.Glu163Ter
NM_001292027.2:c.469G>T	NP_001278956.1:p.Glu157Ter
NM_001292028.2:c.121G>T	NP_001278957.1:p.Glu41Ter
NM_001374497.1:c.532G>T	NP_001361426.1:p.Glu178Ter
NM_001374498.1:c.541G>T	NP_001361427.1:p.Glu181Ter
NM_001374499.1:c.214G>T	NP_001361428.1:p.Glu72Ter
NM_001374500.1:c.100G>T	NP_001361429.1:p.Glu34Ter
NM_001374501.1:c.130G>T	NP_001361430.1:p.Glu44Ter
NM_001374502.1:c.130G>T	NP_001361431.1:p.Glu44Ter
NM_001374503.1:c.130G>T	NP_001361432.1:p.Glu44Ter
NR_164653.1:n.620G>T
NR_164654.1:n.808G>T