Canonical Allele Identifier: CA446036916

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 1100823
• ClinVar RCV Id: RCV001423561
• dbSNP Id: rs2126896399
• gnomAD v4: 5-119531328-G-A
• MyVariant Identifiers: chr5:g.118867023G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531328G>A , CM000667.2:g.119531328G>A	GRCh38
NC_000005.9:g.118867023G>A , CM000667.1:g.118867023G>A	GRCh37
NC_000005.8:g.118894922G>A	NCBI36
NG_008182.1:g.83876G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1848G>A	ENSP00000426272.2:p.Gly616=
ENST00000518349.6:c.1161G>A	ENSP00000507185.1:p.Gly387=
ENST00000682445.1:c.*1798G>A	ENSP00000508061.1:n.*1798G>A
ENST00000682531.1:n.3809G>A
ENST00000682626.1:c.*1423G>A	ENSP00000507857.1:n.*1423G>A
ENST00000682996.1:c.1845G>A	ENSP00000507792.1:p.Gly615=
ENST00000683265.1:n.3703G>A
ENST00000683335.1:n.3319G>A
ENST00000683371.1:c.*2047G>A	ENSP00000508376.1:n.*2047G>A
ENST00000683372.1:n.3927G>A
ENST00000683390.1:n.3607G>A
ENST00000683476.1:n.759G>A
ENST00000683549.1:n.3531G>A
ENST00000683936.1:c.*3495G>A	ENSP00000507721.1:n.*3495G>A
ENST00000683974.1:n.3646G>A
ENST00000683996.1:c.*1127G>A	ENSP00000507060.1:n.*1127G>A
ENST00000684131.1:n.3449G>A
ENST00000684160.1:c.*1607G>A	ENSP00000507821.1:n.*1607G>A
ENST00000684214.1:c.1854+1348G>A	ENSP00000508071.1:n.1854+1348G>A
ENST00000414835.7:c.1992G>A	ENSP00000411960.3:p.Gly664=
ENST00000510025.7:c.1917G>A MANE Select	ENSP00000424940.3:p.Gly639=
ENST00000643250.1:c.*1789G>A	ENSP00000494737.1:n.*1789G>A
ENST00000644146.1:c.*3188G>A	ENSP00000494808.1:n.*3188G>A
ENST00000645099.1:c.1476G>A	ENSP00000496091.1:p.Gly492=
ENST00000645702.1:c.*1320G>A	ENSP00000496432.1:n.*1320G>A
ENST00000645832.1:c.*1802G>A	ENSP00000494316.1:n.*1802G>A
ENST00000646058.1:c.1917G>A	ENSP00000493579.1:p.Gly639=
ENST00000646355.1:c.*1923G>A	ENSP00000493801.1:n.*1923G>A
ENST00000646554.1:c.*1895G>A	ENSP00000494542.1:n.*1895G>A
ENST00000647335.1:c.*1884G>A	ENSP00000495180.1:n.*1884G>A
ENST00000647342.1:c.*1848G>A	ENSP00000494992.1:n.*1848G>A
ENST00000256216.10:c.1917G>A	ENSP00000256216.6:p.Gly639=
ENST00000414835.6:c.1497G>A	ENSP00000411960.2:p.Gly499=
ENST00000442060.7:c.*472G>A	ENSP00000390208.3:n.*472G>A
ENST00000504811.5:c.1992G>A	ENSP00000420914.1:p.Gly664=
ENST00000509514.5:c.1131G>A	ENSP00000426272.1:p.Gly377=
ENST00000509606.1:n.212G>A
ENST00000509951.5:n.309+1348G>A
ENST00000510025.5:c.1845G>A	ENSP00000424940.1:p.Gly615=
ENST00000513628.5:c.1506G>A	ENSP00000425993.1:p.Gly502=
ENST00000515235.6:n.3670G>A
ENST00000515320.5:c.1863G>A	ENSP00000424613.1:p.Gly621=
ENST00000522415.5:n.584G>A
NM_000414.3:c.1917G>A	NP_000405.1:p.Gly639=
NM_001199291.2:c.1992G>A	NP_001186220.1:p.Gly664=
NM_001199292.1:c.1863G>A	NP_001186221.1:p.Gly621=
NM_001292027.1:c.1845G>A	NP_001278956.1:p.Gly615=
NM_001292028.1:c.1497G>A	NP_001278957.1:p.Gly499=
NM_000414.4:c.1917G>A MANE Select	NP_000405.1:p.Gly639=
NM_001199291.3:c.1992G>A	NP_001186220.1:p.Gly664=
NM_001199292.2:c.1863G>A	NP_001186221.1:p.Gly621=
NM_001292027.2:c.1845G>A	NP_001278956.1:p.Gly615=
NM_001292028.2:c.1497G>A	NP_001278957.1:p.Gly499=
NM_001374497.1:c.1908G>A	NP_001361426.1:p.Gly636=
NM_001374498.1:c.1845G>A	NP_001361427.1:p.Gly615=
NM_001374499.1:c.1590G>A	NP_001361428.1:p.Gly530=
NM_001374500.1:c.1476G>A	NP_001361429.1:p.Gly492=
NM_001374501.1:c.1506G>A	NP_001361430.1:p.Gly502=
NM_001374502.1:c.1506G>A	NP_001361431.1:p.Gly502=
NM_001374503.1:c.1506G>A	NP_001361432.1:p.Gly502=
NR_164653.1:n.2014G>A
NR_164654.1:n.2282G>A