Canonical Allele Identifier: CA360868937

Gene: HSD17B4

Linked Data

• dbSNP Id: rs773711119
• gnomAD v4: 5-119515006-C-A
• MyVariant Identifiers: chr5:g.118850701C>A (hg19) ; chr5:g.119515006C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119515006C>A , CM000667.2:g.119515006C>A	GRCh38
NC_000005.9:g.118850701C>A , CM000667.1:g.118850701C>A	GRCh37
NC_000005.8:g.118878600C>A	NCBI36
NG_008182.1:g.67554C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.1394C>A	ENSP00000426272.2:p.Pro465His
ENST00000518349.6:c.707C>A	ENSP00000507185.1:p.Pro236His
ENST00000520244.6:n.3201C>A
ENST00000682445.1:c.*1344C>A	ENSP00000508061.1:n.*1344C>A
ENST00000682531.1:n.3355C>A
ENST00000682626.1:c.*969C>A	ENSP00000507857.1:n.*969C>A
ENST00000682996.1:c.1391C>A	ENSP00000507792.1:p.Pro464His
ENST00000683265.1:n.3249C>A
ENST00000683335.1:n.2865C>A
ENST00000683371.1:c.*1593C>A	ENSP00000508376.1:n.*1593C>A
ENST00000683372.1:n.3473C>A
ENST00000683390.1:n.3153C>A
ENST00000683549.1:n.3077C>A
ENST00000683936.1:c.*3041C>A	ENSP00000507721.1:n.*3041C>A
ENST00000683974.1:n.3213-21C>A
ENST00000683996.1:c.*673C>A	ENSP00000507060.1:n.*673C>A
ENST00000684131.1:n.2995C>A
ENST00000684160.1:c.*1153C>A	ENSP00000507821.1:n.*1153C>A
ENST00000684214.1:c.1463C>A	ENSP00000508071.1:p.Pro488His
ENST00000414835.7:c.1538C>A	ENSP00000411960.3:p.Pro513His
ENST00000510025.7:c.1463C>A MANE Select	ENSP00000424940.3:p.Pro488His
ENST00000643250.1:c.*1335C>A	ENSP00000494737.1:n.*1335C>A
ENST00000644146.1:c.*2734C>A	ENSP00000494808.1:n.*2734C>A
ENST00000645099.1:c.1022C>A	ENSP00000496091.1:p.Pro341His
ENST00000645702.1:c.*866C>A	ENSP00000496432.1:n.*866C>A
ENST00000645832.1:c.*1348C>A	ENSP00000494316.1:n.*1348C>A
ENST00000646058.1:c.1463C>A	ENSP00000493579.1:p.Pro488His
ENST00000646355.1:c.*1469C>A	ENSP00000493801.1:n.*1469C>A
ENST00000646554.1:c.*1441C>A	ENSP00000494542.1:n.*1441C>A
ENST00000647335.1:c.*1430C>A	ENSP00000495180.1:n.*1430C>A
ENST00000647342.1:c.*1394C>A	ENSP00000494992.1:n.*1394C>A
ENST00000256216.10:c.1463C>A	ENSP00000256216.6:p.Pro488His
ENST00000414835.6:c.1043C>A	ENSP00000411960.2:p.Pro348His
ENST00000442060.7:c.*25C>A	ENSP00000390208.3:n.*25C>A
ENST00000504811.5:c.1538C>A	ENSP00000420914.1:p.Pro513His
ENST00000509514.5:c.677C>A	ENSP00000426272.1:p.Pro226His
ENST00000510025.5:c.1391C>A	ENSP00000424940.1:p.Pro464His
ENST00000513628.5:c.1052C>A	ENSP00000425993.1:p.Pro351His
ENST00000515235.6:n.3216C>A
ENST00000515320.5:c.1409C>A	ENSP00000424613.1:p.Pro470His
ENST00000518349.5:n.597C>A
ENST00000520244.5:n.246C>A
ENST00000522415.5:n.130C>A
NM_000414.3:c.1463C>A	NP_000405.1:p.Pro488His
NM_001199291.2:c.1538C>A	NP_001186220.1:p.Pro513His
NM_001199292.1:c.1409C>A	NP_001186221.1:p.Pro470His
NM_001292027.1:c.1391C>A	NP_001278956.1:p.Pro464His
NM_001292028.1:c.1043C>A	NP_001278957.1:p.Pro348His
NM_000414.4:c.1463C>A MANE Select	NP_000405.1:p.Pro488His
NM_001199291.3:c.1538C>A	NP_001186220.1:p.Pro513His
NM_001199292.2:c.1409C>A	NP_001186221.1:p.Pro470His
NM_001292027.2:c.1391C>A	NP_001278956.1:p.Pro464His
NM_001292028.2:c.1043C>A	NP_001278957.1:p.Pro348His
NM_001374497.1:c.1454C>A	NP_001361426.1:p.Pro485His
NM_001374498.1:c.1391C>A	NP_001361427.1:p.Pro464His
NM_001374499.1:c.1136C>A	NP_001361428.1:p.Pro379His
NM_001374500.1:c.1022C>A	NP_001361429.1:p.Pro341His
NM_001374501.1:c.1052C>A	NP_001361430.1:p.Pro351His
NM_001374502.1:c.1052C>A	NP_001361431.1:p.Pro351His
NM_001374503.1:c.1052C>A	NP_001361432.1:p.Pro351His
NR_164653.1:n.1560C>A
NR_164654.1:n.1828C>A