Canonical Allele Identifier: CA360866361

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119478974-T-C
• MyVariant Identifiers: chr5:g.118814669T>C (hg19) ; chr5:g.119478974T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478974T>C , CM000667.2:g.119478974T>C	GRCh38
NC_000005.9:g.118814669T>C , CM000667.1:g.118814669T>C	GRCh37
NC_000005.8:g.118842568T>C	NCBI36
NG_008182.1:g.31522T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.575T>C	ENSP00000426272.2:p.Ile192Thr
ENST00000518349.6:c.113-17569T>C	ENSP00000507185.1:n.113-17569T>C
ENST00000682445.1:c.*456T>C	ENSP00000508061.1:n.*456T>C
ENST00000682531.1:n.676T>C
ENST00000682626.1:c.*81T>C	ENSP00000507857.1:n.*81T>C
ENST00000682996.1:c.575T>C	ENSP00000507792.1:p.Ile192Thr
ENST00000683265.1:n.668T>C
ENST00000683371.1:c.*705T>C	ENSP00000508376.1:n.*705T>C
ENST00000683390.1:n.2265T>C
ENST00000683549.1:n.496T>C
ENST00000683936.1:c.*460T>C	ENSP00000507721.1:n.*460T>C
ENST00000683974.1:n.657T>C
ENST00000683996.1:c.164T>C	ENSP00000507060.1:p.Ile55Thr
ENST00000684131.1:n.414T>C
ENST00000684160.1:c.*265T>C	ENSP00000507821.1:n.*265T>C
ENST00000684214.1:c.575T>C	ENSP00000508071.1:p.Ile192Thr
ENST00000414835.7:c.650T>C	ENSP00000411960.3:p.Ile217Thr
ENST00000510025.7:c.575T>C MANE Select	ENSP00000424940.3:p.Ile192Thr
ENST00000643250.1:c.*447T>C	ENSP00000494737.1:n.*447T>C
ENST00000644146.1:c.*153T>C	ENSP00000494808.1:n.*153T>C
ENST00000645099.1:c.134T>C	ENSP00000496091.1:p.Ile45Thr
ENST00000645702.1:c.164T>C	ENSP00000496432.1:p.Ile55Thr
ENST00000645832.1:c.*460T>C	ENSP00000494316.1:n.*460T>C
ENST00000646058.1:c.575T>C	ENSP00000493579.1:p.Ile192Thr
ENST00000646355.1:c.*581T>C	ENSP00000493801.1:n.*581T>C
ENST00000646554.1:c.*553T>C	ENSP00000494542.1:n.*553T>C
ENST00000647335.1:c.*542T>C	ENSP00000495180.1:n.*542T>C
ENST00000647342.1:c.*506T>C	ENSP00000494992.1:n.*506T>C
ENST00000256216.10:c.575T>C	ENSP00000256216.6:p.Ile192Thr
ENST00000414835.6:c.155T>C	ENSP00000411960.2:p.Ile52Thr
ENST00000442060.7:c.575T>C	ENSP00000390208.3:p.Ile192Thr
ENST00000503168.5:n.564T>C
ENST00000504811.5:c.650T>C	ENSP00000420914.1:p.Ile217Thr
ENST00000505181.5:n.278T>C
ENST00000509514.5:c.-310T>C	ENSP00000426272.1:n.-310T>C
ENST00000510025.5:c.503T>C	ENSP00000424940.1:p.Ile168Thr
ENST00000512644.1:n.143T>C
ENST00000513628.5:c.164T>C	ENSP00000425993.1:p.Ile55Thr
ENST00000515235.6:n.635T>C
ENST00000515320.5:c.521T>C	ENSP00000424613.1:p.Ile174Thr
NM_000414.3:c.575T>C	NP_000405.1:p.Ile192Thr
NM_001199291.2:c.650T>C	NP_001186220.1:p.Ile217Thr
NM_001199292.1:c.521T>C	NP_001186221.1:p.Ile174Thr
NM_001292027.1:c.503T>C	NP_001278956.1:p.Ile168Thr
NM_001292028.1:c.155T>C	NP_001278957.1:p.Ile52Thr
NM_000414.4:c.575T>C MANE Select	NP_000405.1:p.Ile192Thr
NM_001199291.3:c.650T>C	NP_001186220.1:p.Ile217Thr
NM_001199292.2:c.521T>C	NP_001186221.1:p.Ile174Thr
NM_001292027.2:c.503T>C	NP_001278956.1:p.Ile168Thr
NM_001292028.2:c.155T>C	NP_001278957.1:p.Ile52Thr
NM_001374497.1:c.566T>C	NP_001361426.1:p.Ile189Thr
NM_001374498.1:c.575T>C	NP_001361427.1:p.Ile192Thr
NM_001374499.1:c.248T>C	NP_001361428.1:p.Ile83Thr
NM_001374500.1:c.134T>C	NP_001361429.1:p.Ile45Thr
NM_001374501.1:c.164T>C	NP_001361430.1:p.Ile55Thr
NM_001374502.1:c.164T>C	NP_001361431.1:p.Ile55Thr
NM_001374503.1:c.164T>C	NP_001361432.1:p.Ile55Thr
NR_164653.1:n.654T>C
NR_164654.1:n.842T>C