Canonical Allele Identifier: CA3381866

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 872349
• ClinVar RCV Id: RCV001092768
• dbSNP Id: rs747162503
• ExAC: 5:118814575 C / G
• gnomAD v2: 5-118814575-C-G
• gnomAD v4: 5-119478880-C-G
• MyVariant Identifiers: chr5:g.118814575C>G (hg19) ; chr5:g.119478880C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478880C>G , CM000667.2:g.119478880C>G	GRCh38
NC_000005.9:g.118814575C>G , CM000667.1:g.118814575C>G	GRCh37
NC_000005.8:g.118842474C>G	NCBI36
NG_008182.1:g.31428C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.481C>G	ENSP00000426272.2:p.Gln161Glu
ENST00000518349.6:c.113-17663C>G	ENSP00000507185.1:n.113-17663C>G
ENST00000682445.1:c.*362C>G	ENSP00000508061.1:n.*362C>G
ENST00000682531.1:n.582C>G
ENST00000682626.1:c.509C>G	ENSP00000507857.1:p.Pro170Arg
ENST00000682996.1:c.481C>G	ENSP00000507792.1:p.Gln161Glu
ENST00000683265.1:n.574C>G
ENST00000683371.1:c.*611C>G	ENSP00000508376.1:n.*611C>G
ENST00000683390.1:n.2171C>G
ENST00000683549.1:n.402C>G
ENST00000683936.1:c.*366C>G	ENSP00000507721.1:n.*366C>G
ENST00000683974.1:n.563C>G
ENST00000683996.1:c.70C>G	ENSP00000507060.1:p.Gln24Glu
ENST00000684131.1:n.320C>G
ENST00000684160.1:c.*171C>G	ENSP00000507821.1:n.*171C>G
ENST00000684214.1:c.481C>G	ENSP00000508071.1:p.Gln161Glu
ENST00000414835.7:c.556C>G	ENSP00000411960.3:p.Gln186Glu
ENST00000510025.7:c.481C>G MANE Select	ENSP00000424940.3:p.Gln161Glu
ENST00000643250.1:c.*353C>G	ENSP00000494737.1:n.*353C>G
ENST00000644146.1:c.*59C>G	ENSP00000494808.1:n.*59C>G
ENST00000645099.1:c.40C>G	ENSP00000496091.1:p.Gln14Glu
ENST00000645702.1:c.70C>G	ENSP00000496432.1:p.Gln24Glu
ENST00000645832.1:c.*366C>G	ENSP00000494316.1:n.*366C>G
ENST00000646058.1:c.481C>G	ENSP00000493579.1:p.Gln161Glu
ENST00000646355.1:c.*487C>G	ENSP00000493801.1:n.*487C>G
ENST00000646554.1:c.*459C>G	ENSP00000494542.1:n.*459C>G
ENST00000646590.1:c.472C>G	ENSP00000494892.1:p.Gln158Glu
ENST00000647335.1:c.*448C>G	ENSP00000495180.1:n.*448C>G
ENST00000647342.1:c.*412C>G	ENSP00000494992.1:n.*412C>G
ENST00000256216.10:c.481C>G	ENSP00000256216.6:p.Gln161Glu
ENST00000414835.6:c.61C>G	ENSP00000411960.2:p.Gln21Glu
ENST00000442060.7:c.481C>G	ENSP00000390208.3:p.Gln161Glu
ENST00000503168.5:n.470C>G
ENST00000504811.5:c.556C>G	ENSP00000420914.1:p.Gln186Glu
ENST00000505181.5:n.184C>G
ENST00000508788.5:n.383C>G
ENST00000509514.5:c.-404C>G	ENSP00000426272.1:n.-404C>G
ENST00000510025.5:c.409C>G	ENSP00000424940.1:p.Gln137Glu
ENST00000512644.1:n.49C>G
ENST00000512841.5:n.529C>G
ENST00000513628.5:c.70C>G	ENSP00000425993.1:p.Gln24Glu
ENST00000515235.6:n.541C>G
ENST00000515320.5:c.427C>G	ENSP00000424613.1:p.Gln143Glu
NM_000414.3:c.481C>G	NP_000405.1:p.Gln161Glu
NM_001199291.2:c.556C>G	NP_001186220.1:p.Gln186Glu
NM_001199292.1:c.427C>G	NP_001186221.1:p.Gln143Glu
NM_001292027.1:c.409C>G	NP_001278956.1:p.Gln137Glu
NM_001292028.1:c.61C>G	NP_001278957.1:p.Gln21Glu
NM_000414.4:c.481C>G MANE Select	NP_000405.1:p.Gln161Glu
NM_001199291.3:c.556C>G	NP_001186220.1:p.Gln186Glu
NM_001199292.2:c.427C>G	NP_001186221.1:p.Gln143Glu
NM_001292027.2:c.409C>G	NP_001278956.1:p.Gln137Glu
NM_001292028.2:c.61C>G	NP_001278957.1:p.Gln21Glu
NM_001374497.1:c.472C>G	NP_001361426.1:p.Gln158Glu
NM_001374498.1:c.481C>G	NP_001361427.1:p.Gln161Glu
NM_001374499.1:c.154C>G	NP_001361428.1:p.Gln52Glu
NM_001374500.1:c.40C>G	NP_001361429.1:p.Gln14Glu
NM_001374501.1:c.70C>G	NP_001361430.1:p.Gln24Glu
NM_001374502.1:c.70C>G	NP_001361431.1:p.Gln24Glu
NM_001374503.1:c.70C>G	NP_001361432.1:p.Gln24Glu
NR_164653.1:n.560C>G
NR_164654.1:n.748C>G