Canonical Allele Identifier: CA3381891

Gene: HSD17B4

Linked Data

• dbSNP Id: rs774818626
• ExAC: 5:118814702 C / T
• gnomAD v2: 5-118814702-C-T
• gnomAD v4: 5-119479007-C-T
• MyVariant Identifiers: chr5:g.118814702C>T (hg19) ; chr5:g.119479007C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479007C>T , CM000667.2:g.119479007C>T	GRCh38
NC_000005.9:g.118814702C>T , CM000667.1:g.118814702C>T	GRCh37
NC_000005.8:g.118842601C>T	NCBI36
NG_008182.1:g.31555C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.608C>T	ENSP00000426272.2:p.Thr203Ile
ENST00000518349.6:c.113-17536C>T	ENSP00000507185.1:n.113-17536C>T
ENST00000682445.1:c.*489C>T	ENSP00000508061.1:n.*489C>T
ENST00000682531.1:n.709C>T
ENST00000682626.1:c.*114C>T	ENSP00000507857.1:n.*114C>T
ENST00000682996.1:c.608C>T	ENSP00000507792.1:p.Thr203Ile
ENST00000683265.1:n.701C>T
ENST00000683371.1:c.*738C>T	ENSP00000508376.1:n.*738C>T
ENST00000683390.1:n.2298C>T
ENST00000683549.1:n.529C>T
ENST00000683936.1:c.*493C>T	ENSP00000507721.1:n.*493C>T
ENST00000683974.1:n.690C>T
ENST00000683996.1:c.197C>T	ENSP00000507060.1:p.Thr66Ile
ENST00000684131.1:n.447C>T
ENST00000684160.1:c.*298C>T	ENSP00000507821.1:n.*298C>T
ENST00000684214.1:c.608C>T	ENSP00000508071.1:p.Thr203Ile
ENST00000414835.7:c.683C>T	ENSP00000411960.3:p.Thr228Ile
ENST00000510025.7:c.608C>T MANE Select	ENSP00000424940.3:p.Thr203Ile
ENST00000643250.1:c.*480C>T	ENSP00000494737.1:n.*480C>T
ENST00000644146.1:c.*186C>T	ENSP00000494808.1:n.*186C>T
ENST00000645099.1:c.167C>T	ENSP00000496091.1:p.Thr56Ile
ENST00000645702.1:c.197C>T	ENSP00000496432.1:p.Thr66Ile
ENST00000645832.1:c.*493C>T	ENSP00000494316.1:n.*493C>T
ENST00000646058.1:c.608C>T	ENSP00000493579.1:p.Thr203Ile
ENST00000646355.1:c.*614C>T	ENSP00000493801.1:n.*614C>T
ENST00000646554.1:c.*586C>T	ENSP00000494542.1:n.*586C>T
ENST00000647335.1:c.*575C>T	ENSP00000495180.1:n.*575C>T
ENST00000647342.1:c.*539C>T	ENSP00000494992.1:n.*539C>T
ENST00000256216.10:c.608C>T	ENSP00000256216.6:p.Thr203Ile
ENST00000414835.6:c.188C>T	ENSP00000411960.2:p.Thr63Ile
ENST00000442060.7:c.608C>T	ENSP00000390208.3:p.Thr203Ile
ENST00000504811.5:c.683C>T	ENSP00000420914.1:p.Thr228Ile
ENST00000505181.5:n.311C>T
ENST00000509514.5:c.-277C>T	ENSP00000426272.1:n.-277C>T
ENST00000510025.5:c.536C>T	ENSP00000424940.1:p.Thr179Ile
ENST00000512644.1:n.176C>T
ENST00000513628.5:c.197C>T	ENSP00000425993.1:p.Thr66Ile
ENST00000515235.6:n.668C>T
ENST00000515320.5:c.554C>T	ENSP00000424613.1:p.Thr185Ile
NM_000414.3:c.608C>T	NP_000405.1:p.Thr203Ile
NM_001199291.2:c.683C>T	NP_001186220.1:p.Thr228Ile
NM_001199292.1:c.554C>T	NP_001186221.1:p.Thr185Ile
NM_001292027.1:c.536C>T	NP_001278956.1:p.Thr179Ile
NM_001292028.1:c.188C>T	NP_001278957.1:p.Thr63Ile
NM_000414.4:c.608C>T MANE Select	NP_000405.1:p.Thr203Ile
NM_001199291.3:c.683C>T	NP_001186220.1:p.Thr228Ile
NM_001199292.2:c.554C>T	NP_001186221.1:p.Thr185Ile
NM_001292027.2:c.536C>T	NP_001278956.1:p.Thr179Ile
NM_001292028.2:c.188C>T	NP_001278957.1:p.Thr63Ile
NM_001374497.1:c.599C>T	NP_001361426.1:p.Thr200Ile
NM_001374498.1:c.608C>T	NP_001361427.1:p.Thr203Ile
NM_001374499.1:c.281C>T	NP_001361428.1:p.Thr94Ile
NM_001374500.1:c.167C>T	NP_001361429.1:p.Thr56Ile
NM_001374501.1:c.197C>T	NP_001361430.1:p.Thr66Ile
NM_001374502.1:c.197C>T	NP_001361431.1:p.Thr66Ile
NM_001374503.1:c.197C>T	NP_001361432.1:p.Thr66Ile
NR_164653.1:n.687C>T
NR_164654.1:n.875C>T