Canonical Allele Identifier: CA446041501
Gene: HSD17B4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.118814622T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119478927T>C , CM000667.2:g.119478927T>C GRCh38
NC_000005.9:g.118814622T>C , CM000667.1:g.118814622T>C GRCh37
NC_000005.8:g.118842521T>C NCBI36
NG_008182.1:g.31475T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.528T>C ENSP00000426272.2:p.Asn176=
ENST00000518349.6:c.113-17616T>C ENSP00000507185.1:n.113-17616T>C
ENST00000682445.1:c.*409T>C ENSP00000508061.1:n.*409T>C
ENST00000682531.1:n.629T>C
ENST00000682626.1:c.*34T>C ENSP00000507857.1:n.*34T>C
ENST00000682996.1:c.528T>C ENSP00000507792.1:p.Asn176=
ENST00000683265.1:n.621T>C
ENST00000683371.1:c.*658T>C ENSP00000508376.1:n.*658T>C
ENST00000683390.1:n.2218T>C
ENST00000683549.1:n.449T>C
ENST00000683936.1:c.*413T>C ENSP00000507721.1:n.*413T>C
ENST00000683974.1:n.610T>C
ENST00000683996.1:c.117T>C ENSP00000507060.1:p.Asn39=
ENST00000684131.1:n.367T>C
ENST00000684160.1:c.*218T>C ENSP00000507821.1:n.*218T>C
ENST00000684214.1:c.528T>C ENSP00000508071.1:p.Asn176=
ENST00000414835.7:c.603T>C ENSP00000411960.3:p.Asn201=
ENST00000510025.7:c.528T>C MANE Select ENSP00000424940.3:p.Asn176=
ENST00000643250.1:c.*400T>C ENSP00000494737.1:n.*400T>C
ENST00000644146.1:c.*106T>C ENSP00000494808.1:n.*106T>C
ENST00000645099.1:c.87T>C ENSP00000496091.1:p.Asn29=
ENST00000645702.1:c.117T>C ENSP00000496432.1:p.Asn39=
ENST00000645832.1:c.*413T>C ENSP00000494316.1:n.*413T>C
ENST00000646058.1:c.528T>C ENSP00000493579.1:p.Asn176=
ENST00000646355.1:c.*534T>C ENSP00000493801.1:n.*534T>C
ENST00000646554.1:c.*506T>C ENSP00000494542.1:n.*506T>C
ENST00000647335.1:c.*495T>C ENSP00000495180.1:n.*495T>C
ENST00000647342.1:c.*459T>C ENSP00000494992.1:n.*459T>C
ENST00000256216.10:c.528T>C ENSP00000256216.6:p.Asn176=
ENST00000414835.6:c.108T>C ENSP00000411960.2:p.Asn36=
ENST00000442060.7:c.528T>C ENSP00000390208.3:p.Asn176=
ENST00000503168.5:n.517T>C
ENST00000504811.5:c.603T>C ENSP00000420914.1:p.Asn201=
ENST00000505181.5:n.231T>C
ENST00000508788.5:n.430T>C
ENST00000509514.5:c.-357T>C ENSP00000426272.1:n.-357T>C
ENST00000510025.5:c.456T>C ENSP00000424940.1:p.Asn152=
ENST00000512644.1:n.96T>C
ENST00000512841.5:n.576T>C
ENST00000513628.5:c.117T>C ENSP00000425993.1:p.Asn39=
ENST00000515235.6:n.588T>C
ENST00000515320.5:c.474T>C ENSP00000424613.1:p.Asn158=
NM_000414.3:c.528T>C NP_000405.1:p.Asn176=
NM_001199291.2:c.603T>C NP_001186220.1:p.Asn201=
NM_001199292.1:c.474T>C NP_001186221.1:p.Asn158=
NM_001292027.1:c.456T>C NP_001278956.1:p.Asn152=
NM_001292028.1:c.108T>C NP_001278957.1:p.Asn36=
NM_000414.4:c.528T>C MANE Select NP_000405.1:p.Asn176=
NM_001199291.3:c.603T>C NP_001186220.1:p.Asn201=
NM_001199292.2:c.474T>C NP_001186221.1:p.Asn158=
NM_001292027.2:c.456T>C NP_001278956.1:p.Asn152=
NM_001292028.2:c.108T>C NP_001278957.1:p.Asn36=
NM_001374497.1:c.519T>C NP_001361426.1:p.Asn173=
NM_001374498.1:c.528T>C NP_001361427.1:p.Asn176=
NM_001374499.1:c.201T>C NP_001361428.1:p.Asn67=
NM_001374500.1:c.87T>C NP_001361429.1:p.Asn29=
NM_001374501.1:c.117T>C NP_001361430.1:p.Asn39=
NM_001374502.1:c.117T>C NP_001361431.1:p.Asn39=
NM_001374503.1:c.117T>C NP_001361432.1:p.Asn39=
NR_164653.1:n.607T>C
NR_164654.1:n.795T>C