Canonical Allele Identifier: CA2499217502

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 1147998
• ClinVar RCV Id: RCV001487719
• dbSNP Id: rs1417491819

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119452581C>T , CM000667.2:g.119452581C>T	GRCh38
NC_000005.9:g.118788276C>T , CM000667.1:g.118788276C>T	GRCh37
NC_000005.8:g.118816175C>T	NCBI36
NG_008182.1:g.5129C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.6C>T	ENSP00000426272.2:p.Gly2=
ENST00000512841.6:n.47C>T
ENST00000518349.6:c.6C>T	ENSP00000507185.1:p.Gly2=
ENST00000682445.1:c.6C>T	ENSP00000508061.1:p.Gly2=
ENST00000682996.1:c.6C>T	ENSP00000507792.1:p.Gly2=
ENST00000683371.1:c.6C>T	ENSP00000508376.1:p.Gly2=
ENST00000683390.1:n.54C>T
ENST00000683936.1:c.6C>T	ENSP00000507721.1:p.Gly2=
ENST00000683974.1:n.88C>T
ENST00000684214.1:c.6C>T	ENSP00000508071.1:p.Gly2=
ENST00000414835.7:c.-173C>T	ENSP00000411960.3:n.-173C>T
ENST00000510025.7:c.6C>T MANE Select	ENSP00000424940.3:p.Gly2=
ENST00000644146.1:c.6C>T	ENSP00000494808.1:p.Gly2=
ENST00000645832.1:c.6C>T	ENSP00000494316.1:p.Gly2=
ENST00000646058.1:c.6C>T	ENSP00000493579.1:p.Gly2=
ENST00000646590.1:c.6C>T	ENSP00000494892.1:p.Gly2=
ENST00000256216.10:c.6C>T	ENSP00000256216.6:p.Gly2=
ENST00000442060.7:c.6C>T	ENSP00000390208.3:p.Gly2=
ENST00000504811.5:c.-173C>T	ENSP00000420914.1:n.-173C>T
ENST00000510025.5:c.-132C>T	ENSP00000424940.1:n.-132C>T
ENST00000511186.5:n.109C>T
ENST00000515235.6:n.66C>T
ENST00000515320.5:c.6C>T	ENSP00000424613.1:p.Gly2=
ENST00000519184.5:n.17C>T
NM_000414.3:c.6C>T	NP_000405.1:p.Gly2=
NM_001199291.2:c.-173C>T	NP_001186220.1:n.-173C>T
NM_001199292.1:c.6C>T	NP_001186221.1:p.Gly2=
NM_001292027.1:c.-132C>T	NP_001278956.1:n.-132C>T
NM_001292028.1:c.-594C>T	NP_001278957.1:n.-594C>T
NM_000414.4:c.6C>T MANE Select	NP_000405.1:p.Gly2=
NM_001199291.3:c.-173C>T	NP_001186220.1:n.-173C>T
NM_001199292.2:c.6C>T	NP_001186221.1:p.Gly2=
NM_001292027.2:c.-132C>T	NP_001278956.1:n.-132C>T
NM_001292028.2:c.-594C>T	NP_001278957.1:n.-594C>T
NM_001374497.1:c.6C>T	NP_001361426.1:p.Gly2=
NM_001374498.1:c.6C>T	NP_001361427.1:p.Gly2=
NM_001374499.1:c.-528C>T	NP_001361428.1:n.-528C>T
NM_001374500.1:c.-721C>T	NP_001361429.1:n.-721C>T
NM_001374501.1:c.-594C>T	NP_001361430.1:n.-594C>T
NM_001374502.1:c.-599C>T	NP_001361431.1:n.-599C>T
NM_001374503.1:c.-664C>T	NP_001361432.1:n.-664C>T
NR_164653.1:n.85C>T
NR_164654.1:n.85C>T