Canonical Allele Identifier: CA2674981378

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119496451-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119496451G>A , CM000667.2:g.119496451G>A	GRCh38
NC_000005.9:g.118832146G>A , CM000667.1:g.118832146G>A	GRCh37
NC_000005.8:g.118860045G>A	NCBI36
NG_008182.1:g.48999G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.869-92G>A	ENSP00000426272.2:n.869-92G>A
ENST00000518349.6:c.113-92G>A	ENSP00000507185.1:n.113-92G>A
ENST00000682445.1:c.*750-92G>A	ENSP00000508061.1:n.*750-92G>A
ENST00000682531.1:n.2761-92G>A
ENST00000682626.1:c.*375-92G>A	ENSP00000507857.1:n.*375-92G>A
ENST00000682996.1:c.869-92G>A	ENSP00000507792.1:n.869-92G>A
ENST00000683265.1:n.2655-92G>A
ENST00000683371.1:c.*999-92G>A	ENSP00000508376.1:n.*999-92G>A
ENST00000683372.1:n.2879-92G>A
ENST00000683390.1:n.2559-92G>A
ENST00000683549.1:n.2483-92G>A
ENST00000683936.1:c.*2447-92G>A	ENSP00000507721.1:n.*2447-92G>A
ENST00000683974.1:n.2644-92G>A
ENST00000683996.1:c.*79-92G>A	ENSP00000507060.1:n.*79-92G>A
ENST00000684131.1:n.2401-92G>A
ENST00000684160.1:c.*559-92G>A	ENSP00000507821.1:n.*559-92G>A
ENST00000684214.1:c.869-92G>A	ENSP00000508071.1:n.869-92G>A
ENST00000414835.7:c.944-92G>A	ENSP00000411960.3:n.944-92G>A
ENST00000510025.7:c.869-92G>A MANE Select	ENSP00000424940.3:n.869-92G>A
ENST00000643250.1:c.*741-92G>A	ENSP00000494737.1:n.*741-92G>A
ENST00000644146.1:c.*2140-92G>A	ENSP00000494808.1:n.*2140-92G>A
ENST00000645099.1:c.428-92G>A	ENSP00000496091.1:n.428-92G>A
ENST00000645702.1:c.*272-92G>A	ENSP00000496432.1:n.*272-92G>A
ENST00000645832.1:c.*754-92G>A	ENSP00000494316.1:n.*754-92G>A
ENST00000646058.1:c.869-92G>A	ENSP00000493579.1:n.869-92G>A
ENST00000646355.1:c.*875-92G>A	ENSP00000493801.1:n.*875-92G>A
ENST00000646554.1:c.*847-92G>A	ENSP00000494542.1:n.*847-92G>A
ENST00000647335.1:c.*836-92G>A	ENSP00000495180.1:n.*836-92G>A
ENST00000647342.1:c.*800-92G>A	ENSP00000494992.1:n.*800-92G>A
ENST00000256216.10:c.869-92G>A	ENSP00000256216.6:n.869-92G>A
ENST00000414835.6:c.449-92G>A	ENSP00000411960.2:n.449-92G>A
ENST00000442060.7:c.869-92G>A	ENSP00000390208.3:n.869-92G>A
ENST00000504811.5:c.944-92G>A	ENSP00000420914.1:n.944-92G>A
ENST00000509514.5:c.83-92G>A	ENSP00000426272.1:n.83-92G>A
ENST00000510025.5:c.797-92G>A	ENSP00000424940.1:n.797-92G>A
ENST00000513628.5:c.458-92G>A	ENSP00000425993.1:n.458-92G>A
ENST00000515235.6:n.2622-92G>A
ENST00000515320.5:c.815-92G>A	ENSP00000424613.1:n.815-92G>A
ENST00000520216.5:n.130-92G>A
NM_000414.3:c.869-92G>A	NP_000405.1:n.869-92G>A
NM_001199291.2:c.944-92G>A	NP_001186220.1:n.944-92G>A
NM_001199292.1:c.815-92G>A	NP_001186221.1:n.815-92G>A
NM_001292027.1:c.797-92G>A	NP_001278956.1:n.797-92G>A
NM_001292028.1:c.449-92G>A	NP_001278957.1:n.449-92G>A
NM_000414.4:c.869-92G>A MANE Select	NP_000405.1:n.869-92G>A
NM_001199291.3:c.944-92G>A	NP_001186220.1:n.944-92G>A
NM_001199292.2:c.815-92G>A	NP_001186221.1:n.815-92G>A
NM_001292027.2:c.797-92G>A	NP_001278956.1:n.797-92G>A
NM_001292028.2:c.449-92G>A	NP_001278957.1:n.449-92G>A
NM_001374497.1:c.860-92G>A	NP_001361426.1:n.860-92G>A
NM_001374498.1:c.869-92G>A	NP_001361427.1:n.869-92G>A
NM_001374499.1:c.542-92G>A	NP_001361428.1:n.542-92G>A
NM_001374500.1:c.428-92G>A	NP_001361429.1:n.428-92G>A
NM_001374501.1:c.458-92G>A	NP_001361430.1:n.458-92G>A
NM_001374502.1:c.458-92G>A	NP_001361431.1:n.458-92G>A
NM_001374503.1:c.458-92G>A	NP_001361432.1:n.458-92G>A
NR_164653.1:n.966-92G>A
NR_164654.1:n.1234-92G>A