Canonical Allele Identifier: CA2674981391

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119496481-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119496481G>C , CM000667.2:g.119496481G>C	GRCh38
NC_000005.9:g.118832176G>C , CM000667.1:g.118832176G>C	GRCh37
NC_000005.8:g.118860075G>C	NCBI36
NG_008182.1:g.49029G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.869-62G>C	ENSP00000426272.2:n.869-62G>C
ENST00000518349.6:c.113-62G>C	ENSP00000507185.1:n.113-62G>C
ENST00000682445.1:c.*750-62G>C	ENSP00000508061.1:n.*750-62G>C
ENST00000682531.1:n.2761-62G>C
ENST00000682626.1:c.*375-62G>C	ENSP00000507857.1:n.*375-62G>C
ENST00000682996.1:c.869-62G>C	ENSP00000507792.1:n.869-62G>C
ENST00000683265.1:n.2655-62G>C
ENST00000683371.1:c.*999-62G>C	ENSP00000508376.1:n.*999-62G>C
ENST00000683372.1:n.2879-62G>C
ENST00000683390.1:n.2559-62G>C
ENST00000683549.1:n.2483-62G>C
ENST00000683936.1:c.*2447-62G>C	ENSP00000507721.1:n.*2447-62G>C
ENST00000683974.1:n.2644-62G>C
ENST00000683996.1:c.*79-62G>C	ENSP00000507060.1:n.*79-62G>C
ENST00000684131.1:n.2401-62G>C
ENST00000684160.1:c.*559-62G>C	ENSP00000507821.1:n.*559-62G>C
ENST00000684214.1:c.869-62G>C	ENSP00000508071.1:n.869-62G>C
ENST00000414835.7:c.944-62G>C	ENSP00000411960.3:n.944-62G>C
ENST00000510025.7:c.869-62G>C MANE Select	ENSP00000424940.3:n.869-62G>C
ENST00000643250.1:c.*741-62G>C	ENSP00000494737.1:n.*741-62G>C
ENST00000644146.1:c.*2140-62G>C	ENSP00000494808.1:n.*2140-62G>C
ENST00000645099.1:c.428-62G>C	ENSP00000496091.1:n.428-62G>C
ENST00000645702.1:c.*272-62G>C	ENSP00000496432.1:n.*272-62G>C
ENST00000645832.1:c.*754-62G>C	ENSP00000494316.1:n.*754-62G>C
ENST00000646058.1:c.869-62G>C	ENSP00000493579.1:n.869-62G>C
ENST00000646355.1:c.*875-62G>C	ENSP00000493801.1:n.*875-62G>C
ENST00000646554.1:c.*847-62G>C	ENSP00000494542.1:n.*847-62G>C
ENST00000647335.1:c.*836-62G>C	ENSP00000495180.1:n.*836-62G>C
ENST00000647342.1:c.*800-62G>C	ENSP00000494992.1:n.*800-62G>C
ENST00000256216.10:c.869-62G>C	ENSP00000256216.6:n.869-62G>C
ENST00000414835.6:c.449-62G>C	ENSP00000411960.2:n.449-62G>C
ENST00000442060.7:c.869-62G>C	ENSP00000390208.3:n.869-62G>C
ENST00000504811.5:c.944-62G>C	ENSP00000420914.1:n.944-62G>C
ENST00000509514.5:c.83-62G>C	ENSP00000426272.1:n.83-62G>C
ENST00000510025.5:c.797-62G>C	ENSP00000424940.1:n.797-62G>C
ENST00000513628.5:c.458-62G>C	ENSP00000425993.1:n.458-62G>C
ENST00000515235.6:n.2622-62G>C
ENST00000515320.5:c.815-62G>C	ENSP00000424613.1:n.815-62G>C
ENST00000520216.5:n.130-62G>C
NM_000414.3:c.869-62G>C	NP_000405.1:n.869-62G>C
NM_001199291.2:c.944-62G>C	NP_001186220.1:n.944-62G>C
NM_001199292.1:c.815-62G>C	NP_001186221.1:n.815-62G>C
NM_001292027.1:c.797-62G>C	NP_001278956.1:n.797-62G>C
NM_001292028.1:c.449-62G>C	NP_001278957.1:n.449-62G>C
NM_000414.4:c.869-62G>C MANE Select	NP_000405.1:n.869-62G>C
NM_001199291.3:c.944-62G>C	NP_001186220.1:n.944-62G>C
NM_001199292.2:c.815-62G>C	NP_001186221.1:n.815-62G>C
NM_001292027.2:c.797-62G>C	NP_001278956.1:n.797-62G>C
NM_001292028.2:c.449-62G>C	NP_001278957.1:n.449-62G>C
NM_001374497.1:c.860-62G>C	NP_001361426.1:n.860-62G>C
NM_001374498.1:c.869-62G>C	NP_001361427.1:n.869-62G>C
NM_001374499.1:c.542-62G>C	NP_001361428.1:n.542-62G>C
NM_001374500.1:c.428-62G>C	NP_001361429.1:n.428-62G>C
NM_001374501.1:c.458-62G>C	NP_001361430.1:n.458-62G>C
NM_001374502.1:c.458-62G>C	NP_001361431.1:n.458-62G>C
NM_001374503.1:c.458-62G>C	NP_001361432.1:n.458-62G>C
NR_164653.1:n.966-62G>C
NR_164654.1:n.1234-62G>C