Canonical Allele Identifier: CA3381870

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 1089083
• ClinVar RCV Id: RCV001407786
• dbSNP Id: rs770301555
• ExAC: 5:118814613 C / T
• gnomAD v2: 5-118814613-C-T
• gnomAD v4: 5-119478918-C-T
• MyVariant Identifiers: chr5:g.118814613C>T (hg19) ; chr5:g.119478918C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478918C>T , CM000667.2:g.119478918C>T	GRCh38
NC_000005.9:g.118814613C>T , CM000667.1:g.118814613C>T	GRCh37
NC_000005.8:g.118842512C>T	NCBI36
NG_008182.1:g.31466C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.519C>T	ENSP00000426272.2:p.Gly173=
ENST00000518349.6:c.113-17625C>T	ENSP00000507185.1:n.113-17625C>T
ENST00000682445.1:c.*400C>T	ENSP00000508061.1:n.*400C>T
ENST00000682531.1:n.620C>T
ENST00000682626.1:c.*25C>T	ENSP00000507857.1:n.*25C>T
ENST00000682996.1:c.519C>T	ENSP00000507792.1:p.Gly173=
ENST00000683265.1:n.612C>T
ENST00000683371.1:c.*649C>T	ENSP00000508376.1:n.*649C>T
ENST00000683390.1:n.2209C>T
ENST00000683549.1:n.440C>T
ENST00000683936.1:c.*404C>T	ENSP00000507721.1:n.*404C>T
ENST00000683974.1:n.601C>T
ENST00000683996.1:c.108C>T	ENSP00000507060.1:p.Gly36=
ENST00000684131.1:n.358C>T
ENST00000684160.1:c.*209C>T	ENSP00000507821.1:n.*209C>T
ENST00000684214.1:c.519C>T	ENSP00000508071.1:p.Gly173=
ENST00000414835.7:c.594C>T	ENSP00000411960.3:p.Gly198=
ENST00000510025.7:c.519C>T MANE Select	ENSP00000424940.3:p.Gly173=
ENST00000643250.1:c.*391C>T	ENSP00000494737.1:n.*391C>T
ENST00000644146.1:c.*97C>T	ENSP00000494808.1:n.*97C>T
ENST00000645099.1:c.78C>T	ENSP00000496091.1:p.Gly26=
ENST00000645702.1:c.108C>T	ENSP00000496432.1:p.Gly36=
ENST00000645832.1:c.*404C>T	ENSP00000494316.1:n.*404C>T
ENST00000646058.1:c.519C>T	ENSP00000493579.1:p.Gly173=
ENST00000646355.1:c.*525C>T	ENSP00000493801.1:n.*525C>T
ENST00000646554.1:c.*497C>T	ENSP00000494542.1:n.*497C>T
ENST00000647335.1:c.*486C>T	ENSP00000495180.1:n.*486C>T
ENST00000647342.1:c.*450C>T	ENSP00000494992.1:n.*450C>T
ENST00000256216.10:c.519C>T	ENSP00000256216.6:p.Gly173=
ENST00000414835.6:c.99C>T	ENSP00000411960.2:p.Gly33=
ENST00000442060.7:c.519C>T	ENSP00000390208.3:p.Gly173=
ENST00000503168.5:n.508C>T
ENST00000504811.5:c.594C>T	ENSP00000420914.1:p.Gly198=
ENST00000505181.5:n.222C>T
ENST00000508788.5:n.421C>T
ENST00000509514.5:c.-366C>T	ENSP00000426272.1:n.-366C>T
ENST00000510025.5:c.447C>T	ENSP00000424940.1:p.Gly149=
ENST00000512644.1:n.87C>T
ENST00000512841.5:n.567C>T
ENST00000513628.5:c.108C>T	ENSP00000425993.1:p.Gly36=
ENST00000515235.6:n.579C>T
ENST00000515320.5:c.465C>T	ENSP00000424613.1:p.Gly155=
NM_000414.3:c.519C>T	NP_000405.1:p.Gly173=
NM_001199291.2:c.594C>T	NP_001186220.1:p.Gly198=
NM_001199292.1:c.465C>T	NP_001186221.1:p.Gly155=
NM_001292027.1:c.447C>T	NP_001278956.1:p.Gly149=
NM_001292028.1:c.99C>T	NP_001278957.1:p.Gly33=
NM_000414.4:c.519C>T MANE Select	NP_000405.1:p.Gly173=
NM_001199291.3:c.594C>T	NP_001186220.1:p.Gly198=
NM_001199292.2:c.465C>T	NP_001186221.1:p.Gly155=
NM_001292027.2:c.447C>T	NP_001278956.1:p.Gly149=
NM_001292028.2:c.99C>T	NP_001278957.1:p.Gly33=
NM_001374497.1:c.510C>T	NP_001361426.1:p.Gly170=
NM_001374498.1:c.519C>T	NP_001361427.1:p.Gly173=
NM_001374499.1:c.192C>T	NP_001361428.1:p.Gly64=
NM_001374500.1:c.78C>T	NP_001361429.1:p.Gly26=
NM_001374501.1:c.108C>T	NP_001361430.1:p.Gly36=
NM_001374502.1:c.108C>T	NP_001361431.1:p.Gly36=
NM_001374503.1:c.108C>T	NP_001361432.1:p.Gly36=
NR_164653.1:n.598C>T
NR_164654.1:n.786C>T