Canonical Allele Identifier: CA3381590

Gene: HSD17B4

Linked Data

• dbSNP Id: rs781356187
• ExAC: 5:118788318 C / G
• gnomAD v2: 5-118788318-C-G
• gnomAD v4: 5-119452623-C-G
• MyVariant Identifiers: chr5:g.118788318C>G (hg19) ; chr5:g.119452623C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119452623C>G , CM000667.2:g.119452623C>G	GRCh38
NC_000005.9:g.118788318C>G , CM000667.1:g.118788318C>G	GRCh37
NC_000005.8:g.118816217C>G	NCBI36
NG_008182.1:g.5171C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.48C>G	ENSP00000426272.2:p.Gly16=
ENST00000512841.6:n.89C>G
ENST00000518349.6:c.48C>G	ENSP00000507185.1:p.Gly16=
ENST00000682445.1:c.48C>G	ENSP00000508061.1:p.Gly16=
ENST00000682996.1:c.48C>G	ENSP00000507792.1:p.Gly16=
ENST00000683371.1:c.48C>G	ENSP00000508376.1:p.Gly16=
ENST00000683390.1:n.96C>G
ENST00000683936.1:c.48C>G	ENSP00000507721.1:p.Gly16=
ENST00000683974.1:n.130C>G
ENST00000684214.1:c.48C>G	ENSP00000508071.1:p.Gly16=
ENST00000414835.7:c.-131C>G	ENSP00000411960.3:n.-131C>G
ENST00000510025.7:c.48C>G MANE Select	ENSP00000424940.3:p.Gly16=
ENST00000644146.1:c.48C>G	ENSP00000494808.1:p.Gly16=
ENST00000645832.1:c.48C>G	ENSP00000494316.1:p.Gly16=
ENST00000646058.1:c.48C>G	ENSP00000493579.1:p.Gly16=
ENST00000646590.1:c.48C>G	ENSP00000494892.1:p.Gly16=
ENST00000256216.10:c.48C>G	ENSP00000256216.6:p.Gly16=
ENST00000442060.7:c.48C>G	ENSP00000390208.3:p.Gly16=
ENST00000504811.5:c.-131C>G	ENSP00000420914.1:n.-131C>G
ENST00000510025.5:c.-90C>G	ENSP00000424940.1:n.-90C>G
ENST00000511186.5:n.151C>G
ENST00000515235.6:n.108C>G
ENST00000515320.5:c.48C>G	ENSP00000424613.1:p.Gly16=
ENST00000519184.5:n.59C>G
NM_000414.3:c.48C>G	NP_000405.1:p.Gly16=
NM_001199291.2:c.-131C>G	NP_001186220.1:n.-131C>G
NM_001199292.1:c.48C>G	NP_001186221.1:p.Gly16=
NM_001292027.1:c.-90C>G	NP_001278956.1:n.-90C>G
NM_001292028.1:c.-552C>G	NP_001278957.1:n.-552C>G
NM_000414.4:c.48C>G MANE Select	NP_000405.1:p.Gly16=
NM_001199291.3:c.-131C>G	NP_001186220.1:n.-131C>G
NM_001199292.2:c.48C>G	NP_001186221.1:p.Gly16=
NM_001292027.2:c.-90C>G	NP_001278956.1:n.-90C>G
NM_001292028.2:c.-552C>G	NP_001278957.1:n.-552C>G
NM_001374497.1:c.48C>G	NP_001361426.1:p.Gly16=
NM_001374498.1:c.48C>G	NP_001361427.1:p.Gly16=
NM_001374499.1:c.-486C>G	NP_001361428.1:n.-486C>G
NM_001374500.1:c.-679C>G	NP_001361429.1:n.-679C>G
NM_001374501.1:c.-552C>G	NP_001361430.1:n.-552C>G
NM_001374502.1:c.-557C>G	NP_001361431.1:n.-557C>G
NM_001374503.1:c.-622C>G	NP_001361432.1:n.-622C>G
NR_164653.1:n.127C>G
NR_164654.1:n.127C>G