Canonical Allele Identifier: CA360871147

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1754083341
• MyVariant Identifiers: chr5:g.118867027G>C (hg19) ; chr5:g.119531332G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531332G>C , CM000667.2:g.119531332G>C	GRCh38
NC_000005.9:g.118867027G>C , CM000667.1:g.118867027G>C	GRCh37
NC_000005.8:g.118894926G>C	NCBI36
NG_008182.1:g.83880G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1852G>C	ENSP00000426272.2:p.Glu618Gln
ENST00000518349.6:c.1165G>C	ENSP00000507185.1:p.Glu389Gln
ENST00000682445.1:c.*1802G>C	ENSP00000508061.1:n.*1802G>C
ENST00000682531.1:n.3813G>C
ENST00000682626.1:c.*1427G>C	ENSP00000507857.1:n.*1427G>C
ENST00000682996.1:c.1849G>C	ENSP00000507792.1:p.Glu617Gln
ENST00000683265.1:n.3707G>C
ENST00000683335.1:n.3323G>C
ENST00000683371.1:c.*2051G>C	ENSP00000508376.1:n.*2051G>C
ENST00000683372.1:n.3931G>C
ENST00000683390.1:n.3611G>C
ENST00000683476.1:n.763G>C
ENST00000683549.1:n.3535G>C
ENST00000683936.1:c.*3499G>C	ENSP00000507721.1:n.*3499G>C
ENST00000683974.1:n.3650G>C
ENST00000683996.1:c.*1131G>C	ENSP00000507060.1:n.*1131G>C
ENST00000684131.1:n.3453G>C
ENST00000684160.1:c.*1611G>C	ENSP00000507821.1:n.*1611G>C
ENST00000684214.1:c.1854+1352G>C	ENSP00000508071.1:n.1854+1352G>C
ENST00000414835.7:c.1996G>C	ENSP00000411960.3:p.Glu666Gln
ENST00000510025.7:c.1921G>C MANE Select	ENSP00000424940.3:p.Glu641Gln
ENST00000643250.1:c.*1793G>C	ENSP00000494737.1:n.*1793G>C
ENST00000644146.1:c.*3192G>C	ENSP00000494808.1:n.*3192G>C
ENST00000645099.1:c.1480G>C	ENSP00000496091.1:p.Glu494Gln
ENST00000645702.1:c.*1324G>C	ENSP00000496432.1:n.*1324G>C
ENST00000645832.1:c.*1806G>C	ENSP00000494316.1:n.*1806G>C
ENST00000646058.1:c.1921G>C	ENSP00000493579.1:p.Glu641Gln
ENST00000646355.1:c.*1927G>C	ENSP00000493801.1:n.*1927G>C
ENST00000646554.1:c.*1899G>C	ENSP00000494542.1:n.*1899G>C
ENST00000647335.1:c.*1888G>C	ENSP00000495180.1:n.*1888G>C
ENST00000647342.1:c.*1852G>C	ENSP00000494992.1:n.*1852G>C
ENST00000256216.10:c.1921G>C	ENSP00000256216.6:p.Glu641Gln
ENST00000414835.6:c.1501G>C	ENSP00000411960.2:p.Glu501Gln
ENST00000442060.7:c.*476G>C	ENSP00000390208.3:n.*476G>C
ENST00000504811.5:c.1996G>C	ENSP00000420914.1:p.Glu666Gln
ENST00000509514.5:c.1135G>C	ENSP00000426272.1:p.Glu379Gln
ENST00000509606.1:n.216G>C
ENST00000509951.5:n.309+1352G>C
ENST00000510025.5:c.1849G>C	ENSP00000424940.1:p.Glu617Gln
ENST00000513628.5:c.1510G>C	ENSP00000425993.1:p.Glu504Gln
ENST00000515235.6:n.3674G>C
ENST00000515320.5:c.1867G>C	ENSP00000424613.1:p.Glu623Gln
ENST00000522415.5:n.588G>C
NM_000414.3:c.1921G>C	NP_000405.1:p.Glu641Gln
NM_001199291.2:c.1996G>C	NP_001186220.1:p.Glu666Gln
NM_001199292.1:c.1867G>C	NP_001186221.1:p.Glu623Gln
NM_001292027.1:c.1849G>C	NP_001278956.1:p.Glu617Gln
NM_001292028.1:c.1501G>C	NP_001278957.1:p.Glu501Gln
NM_000414.4:c.1921G>C MANE Select	NP_000405.1:p.Glu641Gln
NM_001199291.3:c.1996G>C	NP_001186220.1:p.Glu666Gln
NM_001199292.2:c.1867G>C	NP_001186221.1:p.Glu623Gln
NM_001292027.2:c.1849G>C	NP_001278956.1:p.Glu617Gln
NM_001292028.2:c.1501G>C	NP_001278957.1:p.Glu501Gln
NM_001374497.1:c.1912G>C	NP_001361426.1:p.Glu638Gln
NM_001374498.1:c.1849G>C	NP_001361427.1:p.Glu617Gln
NM_001374499.1:c.1594G>C	NP_001361428.1:p.Glu532Gln
NM_001374500.1:c.1480G>C	NP_001361429.1:p.Glu494Gln
NM_001374501.1:c.1510G>C	NP_001361430.1:p.Glu504Gln
NM_001374502.1:c.1510G>C	NP_001361431.1:p.Glu504Gln
NM_001374503.1:c.1510G>C	NP_001361432.1:p.Glu504Gln
NR_164653.1:n.2018G>C
NR_164654.1:n.2286G>C