Canonical Allele Identifier: CA360866929

Gene: HSD17B4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119489221G>T , CM000667.2:g.119489221G>T	GRCh38
NC_000005.9:g.118824916G>T , CM000667.1:g.118824916G>T	GRCh37
NC_000005.8:g.118852815G>T	NCBI36
NG_008182.1:g.41769G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000414.4:c.652G>T MANE Select	NP_000405.1:p.Val218Leu
ENST00000510025.7:c.652G>T MANE Select	ENSP00000424940.3:p.Val218Leu
NM_000414.3:c.652G>T	NP_000405.1:p.Val218Leu
NM_001199291.2:c.727G>T	NP_001186220.1:p.Val243Leu
NM_001199291.3:c.727G>T	NP_001186220.1:p.Val243Leu
NM_001199292.1:c.598G>T	NP_001186221.1:p.Val200Leu
NM_001199292.2:c.598G>T	NP_001186221.1:p.Val200Leu
NM_001292027.1:c.580G>T	NP_001278956.1:p.Val194Leu
NM_001292027.2:c.580G>T	NP_001278956.1:p.Val194Leu
NM_001292028.1:c.232G>T	NP_001278957.1:p.Val78Leu
NM_001292028.2:c.232G>T	NP_001278957.1:p.Val78Leu
NM_001374497.1:c.643G>T	NP_001361426.1:p.Val215Leu
NM_001374498.1:c.652G>T	NP_001361427.1:p.Val218Leu
NM_001374499.1:c.325G>T	NP_001361428.1:p.Val109Leu
NM_001374500.1:c.211G>T	NP_001361429.1:p.Val71Leu
NM_001374501.1:c.241G>T	NP_001361430.1:p.Val81Leu
NM_001374502.1:c.241G>T	NP_001361431.1:p.Val81Leu
NM_001374503.1:c.241G>T	NP_001361432.1:p.Val81Leu
NR_164653.1:n.731G>T
NR_164654.1:n.919G>T
ENST00000256216.10:c.652G>T	ENSP00000256216.6:p.Val218Leu
ENST00000414835.6:c.232G>T	ENSP00000411960.2:p.Val78Leu
ENST00000414835.7:c.727G>T	ENSP00000411960.3:p.Val243Leu
ENST00000442060.7:c.652G>T	ENSP00000390208.3:p.Val218Leu
ENST00000504811.5:c.727G>T	ENSP00000420914.1:p.Val243Leu
ENST00000505181.5:n.355G>T
ENST00000509514.5:c.-233G>T	ENSP00000426272.1:n.-233G>T
ENST00000509514.6:c.652G>T	ENSP00000426272.2:p.Val218Leu
ENST00000510025.5:c.580G>T	ENSP00000424940.1:p.Val194Leu
ENST00000512644.1:n.220G>T
ENST00000513628.5:c.241G>T	ENSP00000425993.1:p.Val81Leu
ENST00000515235.6:n.712G>T
ENST00000515320.5:c.598G>T	ENSP00000424613.1:p.Val200Leu
ENST00000518349.6:c.113-7322G>T	ENSP00000507185.1:n.113-7322G>T
ENST00000643250.1:c.*524G>T	ENSP00000494737.1:n.*524G>T
ENST00000644146.1:c.*230G>T	ENSP00000494808.1:n.*230G>T
ENST00000645099.1:c.211G>T	ENSP00000496091.1:p.Val71Leu
ENST00000645702.1:c.*55G>T	ENSP00000496432.1:n.*55G>T
ENST00000645832.1:c.*537G>T	ENSP00000494316.1:n.*537G>T
ENST00000646058.1:c.652G>T	ENSP00000493579.1:p.Val218Leu
ENST00000646355.1:c.*658G>T	ENSP00000493801.1:n.*658G>T
ENST00000646554.1:c.*630G>T	ENSP00000494542.1:n.*630G>T
ENST00000647335.1:c.*619G>T	ENSP00000495180.1:n.*619G>T
ENST00000647342.1:c.*583G>T	ENSP00000494992.1:n.*583G>T
ENST00000682445.1:c.*533G>T	ENSP00000508061.1:n.*533G>T
ENST00000682531.1:n.753G>T
ENST00000682626.1:c.*158G>T	ENSP00000507857.1:n.*158G>T
ENST00000682996.1:c.652G>T	ENSP00000507792.1:p.Val218Leu
ENST00000683265.1:n.745G>T
ENST00000683371.1:c.*782G>T	ENSP00000508376.1:n.*782G>T
ENST00000683390.1:n.2342G>T
ENST00000683549.1:n.573G>T
ENST00000683936.1:c.*537G>T	ENSP00000507721.1:n.*537G>T
ENST00000683974.1:n.734G>T
ENST00000683996.1:c.241G>T	ENSP00000507060.1:p.Val81Leu
ENST00000684131.1:n.491G>T
ENST00000684160.1:c.*342G>T	ENSP00000507821.1:n.*342G>T
ENST00000684214.1:c.652G>T	ENSP00000508071.1:p.Val218Leu