Canonical Allele Identifier: CA360866247

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 555994
• ClinVar RCV Id: RCV000671924
• dbSNP Id: rs1554062814
• gnomAD v4: 5-119478922-G-A
• MyVariant Identifiers: chr5:g.118814617G>A (hg19) ; chr5:g.119478922G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478922G>A , CM000667.2:g.119478922G>A	GRCh38
NC_000005.9:g.118814617G>A , CM000667.1:g.118814617G>A	GRCh37
NC_000005.8:g.118842516G>A	NCBI36
NG_008182.1:g.31470G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.523G>A	ENSP00000426272.2:p.Ala175Thr
ENST00000518349.6:c.113-17621G>A	ENSP00000507185.1:n.113-17621G>A
ENST00000682445.1:c.*404G>A	ENSP00000508061.1:n.*404G>A
ENST00000682531.1:n.624G>A
ENST00000682626.1:c.*29G>A	ENSP00000507857.1:n.*29G>A
ENST00000682996.1:c.523G>A	ENSP00000507792.1:p.Ala175Thr
ENST00000683265.1:n.616G>A
ENST00000683371.1:c.*653G>A	ENSP00000508376.1:n.*653G>A
ENST00000683390.1:n.2213G>A
ENST00000683549.1:n.444G>A
ENST00000683936.1:c.*408G>A	ENSP00000507721.1:n.*408G>A
ENST00000683974.1:n.605G>A
ENST00000683996.1:c.112G>A	ENSP00000507060.1:p.Ala38Thr
ENST00000684131.1:n.362G>A
ENST00000684160.1:c.*213G>A	ENSP00000507821.1:n.*213G>A
ENST00000684214.1:c.523G>A	ENSP00000508071.1:p.Ala175Thr
ENST00000414835.7:c.598G>A	ENSP00000411960.3:p.Ala200Thr
ENST00000510025.7:c.523G>A MANE Select	ENSP00000424940.3:p.Ala175Thr
ENST00000643250.1:c.*395G>A	ENSP00000494737.1:n.*395G>A
ENST00000644146.1:c.*101G>A	ENSP00000494808.1:n.*101G>A
ENST00000645099.1:c.82G>A	ENSP00000496091.1:p.Ala28Thr
ENST00000645702.1:c.112G>A	ENSP00000496432.1:p.Ala38Thr
ENST00000645832.1:c.*408G>A	ENSP00000494316.1:n.*408G>A
ENST00000646058.1:c.523G>A	ENSP00000493579.1:p.Ala175Thr
ENST00000646355.1:c.*529G>A	ENSP00000493801.1:n.*529G>A
ENST00000646554.1:c.*501G>A	ENSP00000494542.1:n.*501G>A
ENST00000647335.1:c.*490G>A	ENSP00000495180.1:n.*490G>A
ENST00000647342.1:c.*454G>A	ENSP00000494992.1:n.*454G>A
ENST00000256216.10:c.523G>A	ENSP00000256216.6:p.Ala175Thr
ENST00000414835.6:c.103G>A	ENSP00000411960.2:p.Ala35Thr
ENST00000442060.7:c.523G>A	ENSP00000390208.3:p.Ala175Thr
ENST00000503168.5:n.512G>A
ENST00000504811.5:c.598G>A	ENSP00000420914.1:p.Ala200Thr
ENST00000505181.5:n.226G>A
ENST00000508788.5:n.425G>A
ENST00000509514.5:c.-362G>A	ENSP00000426272.1:n.-362G>A
ENST00000510025.5:c.451G>A	ENSP00000424940.1:p.Ala151Thr
ENST00000512644.1:n.91G>A
ENST00000512841.5:n.571G>A
ENST00000513628.5:c.112G>A	ENSP00000425993.1:p.Ala38Thr
ENST00000515235.6:n.583G>A
ENST00000515320.5:c.469G>A	ENSP00000424613.1:p.Ala157Thr
NM_000414.3:c.523G>A	NP_000405.1:p.Ala175Thr
NM_001199291.2:c.598G>A	NP_001186220.1:p.Ala200Thr
NM_001199292.1:c.469G>A	NP_001186221.1:p.Ala157Thr
NM_001292027.1:c.451G>A	NP_001278956.1:p.Ala151Thr
NM_001292028.1:c.103G>A	NP_001278957.1:p.Ala35Thr
NM_000414.4:c.523G>A MANE Select	NP_000405.1:p.Ala175Thr
NM_001199291.3:c.598G>A	NP_001186220.1:p.Ala200Thr
NM_001199292.2:c.469G>A	NP_001186221.1:p.Ala157Thr
NM_001292027.2:c.451G>A	NP_001278956.1:p.Ala151Thr
NM_001292028.2:c.103G>A	NP_001278957.1:p.Ala35Thr
NM_001374497.1:c.514G>A	NP_001361426.1:p.Ala172Thr
NM_001374498.1:c.523G>A	NP_001361427.1:p.Ala175Thr
NM_001374499.1:c.196G>A	NP_001361428.1:p.Ala66Thr
NM_001374500.1:c.82G>A	NP_001361429.1:p.Ala28Thr
NM_001374501.1:c.112G>A	NP_001361430.1:p.Ala38Thr
NM_001374502.1:c.112G>A	NP_001361431.1:p.Ala38Thr
NM_001374503.1:c.112G>A	NP_001361432.1:p.Ala38Thr
NR_164653.1:n.602G>A
NR_164654.1:n.790G>A