Canonical Allele Identifier: CA360866446

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814711C>T (hg19) ; chr5:g.119479016C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479016C>T , CM000667.2:g.119479016C>T	GRCh38
NC_000005.9:g.118814711C>T , CM000667.1:g.118814711C>T	GRCh37
NC_000005.8:g.118842610C>T	NCBI36
NG_008182.1:g.31564C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.617C>T	ENSP00000426272.2:p.Pro206Leu
ENST00000518349.6:c.113-17527C>T	ENSP00000507185.1:n.113-17527C>T
ENST00000682445.1:c.*498C>T	ENSP00000508061.1:n.*498C>T
ENST00000682531.1:n.718C>T
ENST00000682626.1:c.*123C>T	ENSP00000507857.1:n.*123C>T
ENST00000682996.1:c.617C>T	ENSP00000507792.1:p.Pro206Leu
ENST00000683265.1:n.710C>T
ENST00000683371.1:c.*747C>T	ENSP00000508376.1:n.*747C>T
ENST00000683390.1:n.2307C>T
ENST00000683549.1:n.538C>T
ENST00000683936.1:c.*502C>T	ENSP00000507721.1:n.*502C>T
ENST00000683974.1:n.699C>T
ENST00000683996.1:c.206C>T	ENSP00000507060.1:p.Pro69Leu
ENST00000684131.1:n.456C>T
ENST00000684160.1:c.*307C>T	ENSP00000507821.1:n.*307C>T
ENST00000684214.1:c.617C>T	ENSP00000508071.1:p.Pro206Leu
ENST00000414835.7:c.692C>T	ENSP00000411960.3:p.Pro231Leu
ENST00000510025.7:c.617C>T MANE Select	ENSP00000424940.3:p.Pro206Leu
ENST00000643250.1:c.*489C>T	ENSP00000494737.1:n.*489C>T
ENST00000644146.1:c.*195C>T	ENSP00000494808.1:n.*195C>T
ENST00000645099.1:c.176C>T	ENSP00000496091.1:p.Pro59Leu
ENST00000645702.1:c.206C>T	ENSP00000496432.1:p.Pro69Leu
ENST00000645832.1:c.*502C>T	ENSP00000494316.1:n.*502C>T
ENST00000646058.1:c.617C>T	ENSP00000493579.1:p.Pro206Leu
ENST00000646355.1:c.*623C>T	ENSP00000493801.1:n.*623C>T
ENST00000646554.1:c.*595C>T	ENSP00000494542.1:n.*595C>T
ENST00000647335.1:c.*584C>T	ENSP00000495180.1:n.*584C>T
ENST00000647342.1:c.*548C>T	ENSP00000494992.1:n.*548C>T
ENST00000256216.10:c.617C>T	ENSP00000256216.6:p.Pro206Leu
ENST00000414835.6:c.197C>T	ENSP00000411960.2:p.Pro66Leu
ENST00000442060.7:c.617C>T	ENSP00000390208.3:p.Pro206Leu
ENST00000504811.5:c.692C>T	ENSP00000420914.1:p.Pro231Leu
ENST00000505181.5:n.320C>T
ENST00000509514.5:c.-268C>T	ENSP00000426272.1:n.-268C>T
ENST00000510025.5:c.545C>T	ENSP00000424940.1:p.Pro182Leu
ENST00000512644.1:n.185C>T
ENST00000513628.5:c.206C>T	ENSP00000425993.1:p.Pro69Leu
ENST00000515235.6:n.677C>T
ENST00000515320.5:c.563C>T	ENSP00000424613.1:p.Pro188Leu
NM_000414.3:c.617C>T	NP_000405.1:p.Pro206Leu
NM_001199291.2:c.692C>T	NP_001186220.1:p.Pro231Leu
NM_001199292.1:c.563C>T	NP_001186221.1:p.Pro188Leu
NM_001292027.1:c.545C>T	NP_001278956.1:p.Pro182Leu
NM_001292028.1:c.197C>T	NP_001278957.1:p.Pro66Leu
NM_000414.4:c.617C>T MANE Select	NP_000405.1:p.Pro206Leu
NM_001199291.3:c.692C>T	NP_001186220.1:p.Pro231Leu
NM_001199292.2:c.563C>T	NP_001186221.1:p.Pro188Leu
NM_001292027.2:c.545C>T	NP_001278956.1:p.Pro182Leu
NM_001292028.2:c.197C>T	NP_001278957.1:p.Pro66Leu
NM_001374497.1:c.608C>T	NP_001361426.1:p.Pro203Leu
NM_001374498.1:c.617C>T	NP_001361427.1:p.Pro206Leu
NM_001374499.1:c.290C>T	NP_001361428.1:p.Pro97Leu
NM_001374500.1:c.176C>T	NP_001361429.1:p.Pro59Leu
NM_001374501.1:c.206C>T	NP_001361430.1:p.Pro69Leu
NM_001374502.1:c.206C>T	NP_001361431.1:p.Pro69Leu
NM_001374503.1:c.206C>T	NP_001361432.1:p.Pro69Leu
NR_164653.1:n.696C>T
NR_164654.1:n.884C>T