Canonical Allele Identifier: CA360866260

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 1941206
• ClinVar RCV Id: RCV002643024
• dbSNP Id: rs1748854900
• gnomAD v3: 5-119478928-T-C
• gnomAD v4: 5-119478928-T-C
• MyVariant Identifiers: chr5:g.118814623T>C (hg19) ; chr5:g.119478928T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478928T>C , CM000667.2:g.119478928T>C	GRCh38
NC_000005.9:g.118814623T>C , CM000667.1:g.118814623T>C	GRCh37
NC_000005.8:g.118842522T>C	NCBI36
NG_008182.1:g.31476T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.529T>C	ENSP00000426272.2:p.Ser177Pro
ENST00000518349.6:c.113-17615T>C	ENSP00000507185.1:n.113-17615T>C
ENST00000682445.1:c.*410T>C	ENSP00000508061.1:n.*410T>C
ENST00000682531.1:n.630T>C
ENST00000682626.1:c.*35T>C	ENSP00000507857.1:n.*35T>C
ENST00000682996.1:c.529T>C	ENSP00000507792.1:p.Ser177Pro
ENST00000683265.1:n.622T>C
ENST00000683371.1:c.*659T>C	ENSP00000508376.1:n.*659T>C
ENST00000683390.1:n.2219T>C
ENST00000683549.1:n.450T>C
ENST00000683936.1:c.*414T>C	ENSP00000507721.1:n.*414T>C
ENST00000683974.1:n.611T>C
ENST00000683996.1:c.118T>C	ENSP00000507060.1:p.Ser40Pro
ENST00000684131.1:n.368T>C
ENST00000684160.1:c.*219T>C	ENSP00000507821.1:n.*219T>C
ENST00000684214.1:c.529T>C	ENSP00000508071.1:p.Ser177Pro
ENST00000414835.7:c.604T>C	ENSP00000411960.3:p.Ser202Pro
ENST00000510025.7:c.529T>C MANE Select	ENSP00000424940.3:p.Ser177Pro
ENST00000643250.1:c.*401T>C	ENSP00000494737.1:n.*401T>C
ENST00000644146.1:c.*107T>C	ENSP00000494808.1:n.*107T>C
ENST00000645099.1:c.88T>C	ENSP00000496091.1:p.Ser30Pro
ENST00000645702.1:c.118T>C	ENSP00000496432.1:p.Ser40Pro
ENST00000645832.1:c.*414T>C	ENSP00000494316.1:n.*414T>C
ENST00000646058.1:c.529T>C	ENSP00000493579.1:p.Ser177Pro
ENST00000646355.1:c.*535T>C	ENSP00000493801.1:n.*535T>C
ENST00000646554.1:c.*507T>C	ENSP00000494542.1:n.*507T>C
ENST00000647335.1:c.*496T>C	ENSP00000495180.1:n.*496T>C
ENST00000647342.1:c.*460T>C	ENSP00000494992.1:n.*460T>C
ENST00000256216.10:c.529T>C	ENSP00000256216.6:p.Ser177Pro
ENST00000414835.6:c.109T>C	ENSP00000411960.2:p.Ser37Pro
ENST00000442060.7:c.529T>C	ENSP00000390208.3:p.Ser177Pro
ENST00000503168.5:n.518T>C
ENST00000504811.5:c.604T>C	ENSP00000420914.1:p.Ser202Pro
ENST00000505181.5:n.232T>C
ENST00000508788.5:n.431T>C
ENST00000509514.5:c.-356T>C	ENSP00000426272.1:n.-356T>C
ENST00000510025.5:c.457T>C	ENSP00000424940.1:p.Ser153Pro
ENST00000512644.1:n.97T>C
ENST00000512841.5:n.577T>C
ENST00000513628.5:c.118T>C	ENSP00000425993.1:p.Ser40Pro
ENST00000515235.6:n.589T>C
ENST00000515320.5:c.475T>C	ENSP00000424613.1:p.Ser159Pro
NM_000414.3:c.529T>C	NP_000405.1:p.Ser177Pro
NM_001199291.2:c.604T>C	NP_001186220.1:p.Ser202Pro
NM_001199292.1:c.475T>C	NP_001186221.1:p.Ser159Pro
NM_001292027.1:c.457T>C	NP_001278956.1:p.Ser153Pro
NM_001292028.1:c.109T>C	NP_001278957.1:p.Ser37Pro
NM_000414.4:c.529T>C MANE Select	NP_000405.1:p.Ser177Pro
NM_001199291.3:c.604T>C	NP_001186220.1:p.Ser202Pro
NM_001199292.2:c.475T>C	NP_001186221.1:p.Ser159Pro
NM_001292027.2:c.457T>C	NP_001278956.1:p.Ser153Pro
NM_001292028.2:c.109T>C	NP_001278957.1:p.Ser37Pro
NM_001374497.1:c.520T>C	NP_001361426.1:p.Ser174Pro
NM_001374498.1:c.529T>C	NP_001361427.1:p.Ser177Pro
NM_001374499.1:c.202T>C	NP_001361428.1:p.Ser68Pro
NM_001374500.1:c.88T>C	NP_001361429.1:p.Ser30Pro
NM_001374501.1:c.118T>C	NP_001361430.1:p.Ser40Pro
NM_001374502.1:c.118T>C	NP_001361431.1:p.Ser40Pro
NM_001374503.1:c.118T>C	NP_001361432.1:p.Ser40Pro
NR_164653.1:n.608T>C
NR_164654.1:n.796T>C