Canonical Allele Identifier: CA360866160

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814577G>C (hg19) ; chr5:g.119478882G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478882G>C , CM000667.2:g.119478882G>C	GRCh38
NC_000005.9:g.118814577G>C , CM000667.1:g.118814577G>C	GRCh37
NC_000005.8:g.118842476G>C	NCBI36
NG_008182.1:g.31430G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.483G>C	ENSP00000426272.2:p.Gln161His
ENST00000518349.6:c.113-17661G>C	ENSP00000507185.1:n.113-17661G>C
ENST00000682445.1:c.*364G>C	ENSP00000508061.1:n.*364G>C
ENST00000682531.1:n.584G>C
ENST00000682626.1:c.511G>C	ENSP00000507857.1:p.Gly171Arg
ENST00000682996.1:c.483G>C	ENSP00000507792.1:p.Gln161His
ENST00000683265.1:n.576G>C
ENST00000683371.1:c.*613G>C	ENSP00000508376.1:n.*613G>C
ENST00000683390.1:n.2173G>C
ENST00000683549.1:n.404G>C
ENST00000683936.1:c.*368G>C	ENSP00000507721.1:n.*368G>C
ENST00000683974.1:n.565G>C
ENST00000683996.1:c.72G>C	ENSP00000507060.1:p.Gln24His
ENST00000684131.1:n.322G>C
ENST00000684160.1:c.*173G>C	ENSP00000507821.1:n.*173G>C
ENST00000684214.1:c.483G>C	ENSP00000508071.1:p.Gln161His
ENST00000414835.7:c.558G>C	ENSP00000411960.3:p.Gln186His
ENST00000510025.7:c.483G>C MANE Select	ENSP00000424940.3:p.Gln161His
ENST00000643250.1:c.*355G>C	ENSP00000494737.1:n.*355G>C
ENST00000644146.1:c.*61G>C	ENSP00000494808.1:n.*61G>C
ENST00000645099.1:c.42G>C	ENSP00000496091.1:p.Gln14His
ENST00000645702.1:c.72G>C	ENSP00000496432.1:p.Gln24His
ENST00000645832.1:c.*368G>C	ENSP00000494316.1:n.*368G>C
ENST00000646058.1:c.483G>C	ENSP00000493579.1:p.Gln161His
ENST00000646355.1:c.*489G>C	ENSP00000493801.1:n.*489G>C
ENST00000646554.1:c.*461G>C	ENSP00000494542.1:n.*461G>C
ENST00000646590.1:c.474G>C	ENSP00000494892.1:p.Gln158His
ENST00000647335.1:c.*450G>C	ENSP00000495180.1:n.*450G>C
ENST00000647342.1:c.*414G>C	ENSP00000494992.1:n.*414G>C
ENST00000256216.10:c.483G>C	ENSP00000256216.6:p.Gln161His
ENST00000414835.6:c.63G>C	ENSP00000411960.2:p.Gln21His
ENST00000442060.7:c.483G>C	ENSP00000390208.3:p.Gln161His
ENST00000503168.5:n.472G>C
ENST00000504811.5:c.558G>C	ENSP00000420914.1:p.Gln186His
ENST00000505181.5:n.186G>C
ENST00000508788.5:n.385G>C
ENST00000509514.5:c.-402G>C	ENSP00000426272.1:n.-402G>C
ENST00000510025.5:c.411G>C	ENSP00000424940.1:p.Gln137His
ENST00000512644.1:n.51G>C
ENST00000512841.5:n.531G>C
ENST00000513628.5:c.72G>C	ENSP00000425993.1:p.Gln24His
ENST00000515235.6:n.543G>C
ENST00000515320.5:c.429G>C	ENSP00000424613.1:p.Gln143His
NM_000414.3:c.483G>C	NP_000405.1:p.Gln161His
NM_001199291.2:c.558G>C	NP_001186220.1:p.Gln186His
NM_001199292.1:c.429G>C	NP_001186221.1:p.Gln143His
NM_001292027.1:c.411G>C	NP_001278956.1:p.Gln137His
NM_001292028.1:c.63G>C	NP_001278957.1:p.Gln21His
NM_000414.4:c.483G>C MANE Select	NP_000405.1:p.Gln161His
NM_001199291.3:c.558G>C	NP_001186220.1:p.Gln186His
NM_001199292.2:c.429G>C	NP_001186221.1:p.Gln143His
NM_001292027.2:c.411G>C	NP_001278956.1:p.Gln137His
NM_001292028.2:c.63G>C	NP_001278957.1:p.Gln21His
NM_001374497.1:c.474G>C	NP_001361426.1:p.Gln158His
NM_001374498.1:c.483G>C	NP_001361427.1:p.Gln161His
NM_001374499.1:c.156G>C	NP_001361428.1:p.Gln52His
NM_001374500.1:c.42G>C	NP_001361429.1:p.Gln14His
NM_001374501.1:c.72G>C	NP_001361430.1:p.Gln24His
NM_001374502.1:c.72G>C	NP_001361431.1:p.Gln24His
NM_001374503.1:c.72G>C	NP_001361432.1:p.Gln24His
NR_164653.1:n.562G>C
NR_164654.1:n.750G>C