Canonical Allele Identifier: CA446041445

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119478885-C-T
• MyVariant Identifiers: chr5:g.118814580C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478885C>T , CM000667.2:g.119478885C>T	GRCh38
NC_000005.9:g.118814580C>T , CM000667.1:g.118814580C>T	GRCh37
NC_000005.8:g.118842479C>T	NCBI36
NG_008182.1:g.31433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.486C>T	ENSP00000426272.2:p.Ala162=
ENST00000518349.6:c.113-17658C>T	ENSP00000507185.1:n.113-17658C>T
ENST00000682445.1:c.*367C>T	ENSP00000508061.1:n.*367C>T
ENST00000682531.1:n.587C>T
ENST00000682626.1:c.514C>T	ENSP00000507857.1:p.Gln172Ter
ENST00000682996.1:c.486C>T	ENSP00000507792.1:p.Ala162=
ENST00000683265.1:n.579C>T
ENST00000683371.1:c.*616C>T	ENSP00000508376.1:n.*616C>T
ENST00000683390.1:n.2176C>T
ENST00000683549.1:n.407C>T
ENST00000683936.1:c.*371C>T	ENSP00000507721.1:n.*371C>T
ENST00000683974.1:n.568C>T
ENST00000683996.1:c.75C>T	ENSP00000507060.1:p.Ala25=
ENST00000684131.1:n.325C>T
ENST00000684160.1:c.*176C>T	ENSP00000507821.1:n.*176C>T
ENST00000684214.1:c.486C>T	ENSP00000508071.1:p.Ala162=
ENST00000414835.7:c.561C>T	ENSP00000411960.3:p.Ala187=
ENST00000510025.7:c.486C>T MANE Select	ENSP00000424940.3:p.Ala162=
ENST00000643250.1:c.*358C>T	ENSP00000494737.1:n.*358C>T
ENST00000644146.1:c.*64C>T	ENSP00000494808.1:n.*64C>T
ENST00000645099.1:c.45C>T	ENSP00000496091.1:p.Ala15=
ENST00000645702.1:c.75C>T	ENSP00000496432.1:p.Ala25=
ENST00000645832.1:c.*371C>T	ENSP00000494316.1:n.*371C>T
ENST00000646058.1:c.486C>T	ENSP00000493579.1:p.Ala162=
ENST00000646355.1:c.*492C>T	ENSP00000493801.1:n.*492C>T
ENST00000646554.1:c.*464C>T	ENSP00000494542.1:n.*464C>T
ENST00000646590.1:c.477C>T	ENSP00000494892.1:p.Ala159=
ENST00000647335.1:c.*453C>T	ENSP00000495180.1:n.*453C>T
ENST00000647342.1:c.*417C>T	ENSP00000494992.1:n.*417C>T
ENST00000256216.10:c.486C>T	ENSP00000256216.6:p.Ala162=
ENST00000414835.6:c.66C>T	ENSP00000411960.2:p.Ala22=
ENST00000442060.7:c.486C>T	ENSP00000390208.3:p.Ala162=
ENST00000503168.5:n.475C>T
ENST00000504811.5:c.561C>T	ENSP00000420914.1:p.Ala187=
ENST00000505181.5:n.189C>T
ENST00000508788.5:n.388C>T
ENST00000509514.5:c.-399C>T	ENSP00000426272.1:n.-399C>T
ENST00000510025.5:c.414C>T	ENSP00000424940.1:p.Ala138=
ENST00000512644.1:n.54C>T
ENST00000512841.5:n.534C>T
ENST00000513628.5:c.75C>T	ENSP00000425993.1:p.Ala25=
ENST00000515235.6:n.546C>T
ENST00000515320.5:c.432C>T	ENSP00000424613.1:p.Ala144=
NM_000414.3:c.486C>T	NP_000405.1:p.Ala162=
NM_001199291.2:c.561C>T	NP_001186220.1:p.Ala187=
NM_001199292.1:c.432C>T	NP_001186221.1:p.Ala144=
NM_001292027.1:c.414C>T	NP_001278956.1:p.Ala138=
NM_001292028.1:c.66C>T	NP_001278957.1:p.Ala22=
NM_000414.4:c.486C>T MANE Select	NP_000405.1:p.Ala162=
NM_001199291.3:c.561C>T	NP_001186220.1:p.Ala187=
NM_001199292.2:c.432C>T	NP_001186221.1:p.Ala144=
NM_001292027.2:c.414C>T	NP_001278956.1:p.Ala138=
NM_001292028.2:c.66C>T	NP_001278957.1:p.Ala22=
NM_001374497.1:c.477C>T	NP_001361426.1:p.Ala159=
NM_001374498.1:c.486C>T	NP_001361427.1:p.Ala162=
NM_001374499.1:c.159C>T	NP_001361428.1:p.Ala53=
NM_001374500.1:c.45C>T	NP_001361429.1:p.Ala15=
NM_001374501.1:c.75C>T	NP_001361430.1:p.Ala25=
NM_001374502.1:c.75C>T	NP_001361431.1:p.Ala25=
NM_001374503.1:c.75C>T	NP_001361432.1:p.Ala25=
NR_164653.1:n.565C>T
NR_164654.1:n.753C>T