Canonical Allele Identifier: CA446041463

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 1672766
• ClinVar RCV Id: RCV002210702
• dbSNP Id: rs1748850526
• gnomAD v3: 5-119478897-T-C
• gnomAD v4: 5-119478897-T-C
• MyVariant Identifiers: chr5:g.118814592T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478897T>C , CM000667.2:g.119478897T>C	GRCh38
NC_000005.9:g.118814592T>C , CM000667.1:g.118814592T>C	GRCh37
NC_000005.8:g.118842491T>C	NCBI36
NG_008182.1:g.31445T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.498T>C	ENSP00000426272.2:p.Ala166=
ENST00000518349.6:c.113-17646T>C	ENSP00000507185.1:n.113-17646T>C
ENST00000682445.1:c.*379T>C	ENSP00000508061.1:n.*379T>C
ENST00000682531.1:n.599T>C
ENST00000682626.1:c.*4T>C	ENSP00000507857.1:n.*4T>C
ENST00000682996.1:c.498T>C	ENSP00000507792.1:p.Ala166=
ENST00000683265.1:n.591T>C
ENST00000683371.1:c.*628T>C	ENSP00000508376.1:n.*628T>C
ENST00000683390.1:n.2188T>C
ENST00000683549.1:n.419T>C
ENST00000683936.1:c.*383T>C	ENSP00000507721.1:n.*383T>C
ENST00000683974.1:n.580T>C
ENST00000683996.1:c.87T>C	ENSP00000507060.1:p.Ala29=
ENST00000684131.1:n.337T>C
ENST00000684160.1:c.*188T>C	ENSP00000507821.1:n.*188T>C
ENST00000684214.1:c.498T>C	ENSP00000508071.1:p.Ala166=
ENST00000414835.7:c.573T>C	ENSP00000411960.3:p.Ala191=
ENST00000510025.7:c.498T>C MANE Select	ENSP00000424940.3:p.Ala166=
ENST00000643250.1:c.*370T>C	ENSP00000494737.1:n.*370T>C
ENST00000644146.1:c.*76T>C	ENSP00000494808.1:n.*76T>C
ENST00000645099.1:c.57T>C	ENSP00000496091.1:p.Ala19=
ENST00000645702.1:c.87T>C	ENSP00000496432.1:p.Ala29=
ENST00000645832.1:c.*383T>C	ENSP00000494316.1:n.*383T>C
ENST00000646058.1:c.498T>C	ENSP00000493579.1:p.Ala166=
ENST00000646355.1:c.*504T>C	ENSP00000493801.1:n.*504T>C
ENST00000646554.1:c.*476T>C	ENSP00000494542.1:n.*476T>C
ENST00000646590.1:c.489T>C	ENSP00000494892.1:p.Ala163=
ENST00000647335.1:c.*465T>C	ENSP00000495180.1:n.*465T>C
ENST00000647342.1:c.*429T>C	ENSP00000494992.1:n.*429T>C
ENST00000256216.10:c.498T>C	ENSP00000256216.6:p.Ala166=
ENST00000414835.6:c.78T>C	ENSP00000411960.2:p.Ala26=
ENST00000442060.7:c.498T>C	ENSP00000390208.3:p.Ala166=
ENST00000503168.5:n.487T>C
ENST00000504811.5:c.573T>C	ENSP00000420914.1:p.Ala191=
ENST00000505181.5:n.201T>C
ENST00000508788.5:n.400T>C
ENST00000509514.5:c.-387T>C	ENSP00000426272.1:n.-387T>C
ENST00000510025.5:c.426T>C	ENSP00000424940.1:p.Ala142=
ENST00000512644.1:n.66T>C
ENST00000512841.5:n.546T>C
ENST00000513628.5:c.87T>C	ENSP00000425993.1:p.Ala29=
ENST00000515235.6:n.558T>C
ENST00000515320.5:c.444T>C	ENSP00000424613.1:p.Ala148=
NM_000414.3:c.498T>C	NP_000405.1:p.Ala166=
NM_001199291.2:c.573T>C	NP_001186220.1:p.Ala191=
NM_001199292.1:c.444T>C	NP_001186221.1:p.Ala148=
NM_001292027.1:c.426T>C	NP_001278956.1:p.Ala142=
NM_001292028.1:c.78T>C	NP_001278957.1:p.Ala26=
NM_000414.4:c.498T>C MANE Select	NP_000405.1:p.Ala166=
NM_001199291.3:c.573T>C	NP_001186220.1:p.Ala191=
NM_001199292.2:c.444T>C	NP_001186221.1:p.Ala148=
NM_001292027.2:c.426T>C	NP_001278956.1:p.Ala142=
NM_001292028.2:c.78T>C	NP_001278957.1:p.Ala26=
NM_001374497.1:c.489T>C	NP_001361426.1:p.Ala163=
NM_001374498.1:c.498T>C	NP_001361427.1:p.Ala166=
NM_001374499.1:c.171T>C	NP_001361428.1:p.Ala57=
NM_001374500.1:c.57T>C	NP_001361429.1:p.Ala19=
NM_001374501.1:c.87T>C	NP_001361430.1:p.Ala29=
NM_001374502.1:c.87T>C	NP_001361431.1:p.Ala29=
NM_001374503.1:c.87T>C	NP_001361432.1:p.Ala29=
NR_164653.1:n.577T>C
NR_164654.1:n.765T>C