Canonical Allele Identifier: CA3381868

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 501432
• ClinVar RCV Id: RCV000593808 ; RCV001079250
• dbSNP Id: rs776640310
• ExAC: 5:118814595 A / C
• gnomAD v2: 5-118814595-A-C
• gnomAD v3: 5-119478900-A-C
• gnomAD v4: 5-119478900-A-C
• MyVariant Identifiers: chr5:g.118814595A>C (hg19) ; chr5:g.119478900A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478900A>C , CM000667.2:g.119478900A>C	GRCh38
NC_000005.9:g.118814595A>C , CM000667.1:g.118814595A>C	GRCh37
NC_000005.8:g.118842494A>C	NCBI36
NG_008182.1:g.31448A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.501A>C	ENSP00000426272.2:p.Ala167=
ENST00000518349.6:c.113-17643A>C	ENSP00000507185.1:n.113-17643A>C
ENST00000682445.1:c.*382A>C	ENSP00000508061.1:n.*382A>C
ENST00000682531.1:n.602A>C
ENST00000682626.1:c.*7A>C	ENSP00000507857.1:n.*7A>C
ENST00000682996.1:c.501A>C	ENSP00000507792.1:p.Ala167=
ENST00000683265.1:n.594A>C
ENST00000683371.1:c.*631A>C	ENSP00000508376.1:n.*631A>C
ENST00000683390.1:n.2191A>C
ENST00000683549.1:n.422A>C
ENST00000683936.1:c.*386A>C	ENSP00000507721.1:n.*386A>C
ENST00000683974.1:n.583A>C
ENST00000683996.1:c.90A>C	ENSP00000507060.1:p.Ala30=
ENST00000684131.1:n.340A>C
ENST00000684160.1:c.*191A>C	ENSP00000507821.1:n.*191A>C
ENST00000684214.1:c.501A>C	ENSP00000508071.1:p.Ala167=
ENST00000414835.7:c.576A>C	ENSP00000411960.3:p.Ala192=
ENST00000510025.7:c.501A>C MANE Select	ENSP00000424940.3:p.Ala167=
ENST00000643250.1:c.*373A>C	ENSP00000494737.1:n.*373A>C
ENST00000644146.1:c.*79A>C	ENSP00000494808.1:n.*79A>C
ENST00000645099.1:c.60A>C	ENSP00000496091.1:p.Ala20=
ENST00000645702.1:c.90A>C	ENSP00000496432.1:p.Ala30=
ENST00000645832.1:c.*386A>C	ENSP00000494316.1:n.*386A>C
ENST00000646058.1:c.501A>C	ENSP00000493579.1:p.Ala167=
ENST00000646355.1:c.*507A>C	ENSP00000493801.1:n.*507A>C
ENST00000646554.1:c.*479A>C	ENSP00000494542.1:n.*479A>C
ENST00000646590.1:c.492A>C	ENSP00000494892.1:p.Ala164=
ENST00000647335.1:c.*468A>C	ENSP00000495180.1:n.*468A>C
ENST00000647342.1:c.*432A>C	ENSP00000494992.1:n.*432A>C
ENST00000256216.10:c.501A>C	ENSP00000256216.6:p.Ala167=
ENST00000414835.6:c.81A>C	ENSP00000411960.2:p.Ala27=
ENST00000442060.7:c.501A>C	ENSP00000390208.3:p.Ala167=
ENST00000503168.5:n.490A>C
ENST00000504811.5:c.576A>C	ENSP00000420914.1:p.Ala192=
ENST00000505181.5:n.204A>C
ENST00000508788.5:n.403A>C
ENST00000509514.5:c.-384A>C	ENSP00000426272.1:n.-384A>C
ENST00000510025.5:c.429A>C	ENSP00000424940.1:p.Ala143=
ENST00000512644.1:n.69A>C
ENST00000512841.5:n.549A>C
ENST00000513628.5:c.90A>C	ENSP00000425993.1:p.Ala30=
ENST00000515235.6:n.561A>C
ENST00000515320.5:c.447A>C	ENSP00000424613.1:p.Ala149=
NM_000414.3:c.501A>C	NP_000405.1:p.Ala167=
NM_001199291.2:c.576A>C	NP_001186220.1:p.Ala192=
NM_001199292.1:c.447A>C	NP_001186221.1:p.Ala149=
NM_001292027.1:c.429A>C	NP_001278956.1:p.Ala143=
NM_001292028.1:c.81A>C	NP_001278957.1:p.Ala27=
NM_000414.4:c.501A>C MANE Select	NP_000405.1:p.Ala167=
NM_001199291.3:c.576A>C	NP_001186220.1:p.Ala192=
NM_001199292.2:c.447A>C	NP_001186221.1:p.Ala149=
NM_001292027.2:c.429A>C	NP_001278956.1:p.Ala143=
NM_001292028.2:c.81A>C	NP_001278957.1:p.Ala27=
NM_001374497.1:c.492A>C	NP_001361426.1:p.Ala164=
NM_001374498.1:c.501A>C	NP_001361427.1:p.Ala167=
NM_001374499.1:c.174A>C	NP_001361428.1:p.Ala58=
NM_001374500.1:c.60A>C	NP_001361429.1:p.Ala20=
NM_001374501.1:c.90A>C	NP_001361430.1:p.Ala30=
NM_001374502.1:c.90A>C	NP_001361431.1:p.Ala30=
NM_001374503.1:c.90A>C	NP_001361432.1:p.Ala30=
NR_164653.1:n.580A>C
NR_164654.1:n.768A>C