Canonical Allele Identifier: CA446041516

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119478945-C-T
• MyVariant Identifiers: chr5:g.118814640C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478945C>T , CM000667.2:g.119478945C>T	GRCh38
NC_000005.9:g.118814640C>T , CM000667.1:g.118814640C>T	GRCh37
NC_000005.8:g.118842539C>T	NCBI36
NG_008182.1:g.31493C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.546C>T	ENSP00000426272.2:p.Gly182=
ENST00000518349.6:c.113-17598C>T	ENSP00000507185.1:n.113-17598C>T
ENST00000682445.1:c.*427C>T	ENSP00000508061.1:n.*427C>T
ENST00000682531.1:n.647C>T
ENST00000682626.1:c.*52C>T	ENSP00000507857.1:n.*52C>T
ENST00000682996.1:c.546C>T	ENSP00000507792.1:p.Gly182=
ENST00000683265.1:n.639C>T
ENST00000683371.1:c.*676C>T	ENSP00000508376.1:n.*676C>T
ENST00000683390.1:n.2236C>T
ENST00000683549.1:n.467C>T
ENST00000683936.1:c.*431C>T	ENSP00000507721.1:n.*431C>T
ENST00000683974.1:n.628C>T
ENST00000683996.1:c.135C>T	ENSP00000507060.1:p.Gly45=
ENST00000684131.1:n.385C>T
ENST00000684160.1:c.*236C>T	ENSP00000507821.1:n.*236C>T
ENST00000684214.1:c.546C>T	ENSP00000508071.1:p.Gly182=
ENST00000414835.7:c.621C>T	ENSP00000411960.3:p.Gly207=
ENST00000510025.7:c.546C>T MANE Select	ENSP00000424940.3:p.Gly182=
ENST00000643250.1:c.*418C>T	ENSP00000494737.1:n.*418C>T
ENST00000644146.1:c.*124C>T	ENSP00000494808.1:n.*124C>T
ENST00000645099.1:c.105C>T	ENSP00000496091.1:p.Gly35=
ENST00000645702.1:c.135C>T	ENSP00000496432.1:p.Gly45=
ENST00000645832.1:c.*431C>T	ENSP00000494316.1:n.*431C>T
ENST00000646058.1:c.546C>T	ENSP00000493579.1:p.Gly182=
ENST00000646355.1:c.*552C>T	ENSP00000493801.1:n.*552C>T
ENST00000646554.1:c.*524C>T	ENSP00000494542.1:n.*524C>T
ENST00000647335.1:c.*513C>T	ENSP00000495180.1:n.*513C>T
ENST00000647342.1:c.*477C>T	ENSP00000494992.1:n.*477C>T
ENST00000256216.10:c.546C>T	ENSP00000256216.6:p.Gly182=
ENST00000414835.6:c.126C>T	ENSP00000411960.2:p.Gly42=
ENST00000442060.7:c.546C>T	ENSP00000390208.3:p.Gly182=
ENST00000503168.5:n.535C>T
ENST00000504811.5:c.621C>T	ENSP00000420914.1:p.Gly207=
ENST00000505181.5:n.249C>T
ENST00000509514.5:c.-339C>T	ENSP00000426272.1:n.-339C>T
ENST00000510025.5:c.474C>T	ENSP00000424940.1:p.Gly158=
ENST00000512644.1:n.114C>T
ENST00000513628.5:c.135C>T	ENSP00000425993.1:p.Gly45=
ENST00000515235.6:n.606C>T
ENST00000515320.5:c.492C>T	ENSP00000424613.1:p.Gly164=
NM_000414.3:c.546C>T	NP_000405.1:p.Gly182=
NM_001199291.2:c.621C>T	NP_001186220.1:p.Gly207=
NM_001199292.1:c.492C>T	NP_001186221.1:p.Gly164=
NM_001292027.1:c.474C>T	NP_001278956.1:p.Gly158=
NM_001292028.1:c.126C>T	NP_001278957.1:p.Gly42=
NM_000414.4:c.546C>T MANE Select	NP_000405.1:p.Gly182=
NM_001199291.3:c.621C>T	NP_001186220.1:p.Gly207=
NM_001199292.2:c.492C>T	NP_001186221.1:p.Gly164=
NM_001292027.2:c.474C>T	NP_001278956.1:p.Gly158=
NM_001292028.2:c.126C>T	NP_001278957.1:p.Gly42=
NM_001374497.1:c.537C>T	NP_001361426.1:p.Gly179=
NM_001374498.1:c.546C>T	NP_001361427.1:p.Gly182=
NM_001374499.1:c.219C>T	NP_001361428.1:p.Gly73=
NM_001374500.1:c.105C>T	NP_001361429.1:p.Gly35=
NM_001374501.1:c.135C>T	NP_001361430.1:p.Gly45=
NM_001374502.1:c.135C>T	NP_001361431.1:p.Gly45=
NM_001374503.1:c.135C>T	NP_001361432.1:p.Gly45=
NR_164653.1:n.625C>T
NR_164654.1:n.813C>T