Canonical Allele Identifier: CA360866281

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1272060835
• gnomAD v2: 5-118814633-T-C
• gnomAD v4: 5-119478938-T-C
• MyVariant Identifiers: chr5:g.118814633T>C (hg19) ; chr5:g.119478938T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478938T>C , CM000667.2:g.119478938T>C	GRCh38
NC_000005.9:g.118814633T>C , CM000667.1:g.118814633T>C	GRCh37
NC_000005.8:g.118842532T>C	NCBI36
NG_008182.1:g.31486T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.539T>C	ENSP00000426272.2:p.Ile180Thr
ENST00000518349.6:c.113-17605T>C	ENSP00000507185.1:n.113-17605T>C
ENST00000682445.1:c.*420T>C	ENSP00000508061.1:n.*420T>C
ENST00000682531.1:n.640T>C
ENST00000682626.1:c.*45T>C	ENSP00000507857.1:n.*45T>C
ENST00000682996.1:c.539T>C	ENSP00000507792.1:p.Ile180Thr
ENST00000683265.1:n.632T>C
ENST00000683371.1:c.*669T>C	ENSP00000508376.1:n.*669T>C
ENST00000683390.1:n.2229T>C
ENST00000683549.1:n.460T>C
ENST00000683936.1:c.*424T>C	ENSP00000507721.1:n.*424T>C
ENST00000683974.1:n.621T>C
ENST00000683996.1:c.128T>C	ENSP00000507060.1:p.Ile43Thr
ENST00000684131.1:n.378T>C
ENST00000684160.1:c.*229T>C	ENSP00000507821.1:n.*229T>C
ENST00000684214.1:c.539T>C	ENSP00000508071.1:p.Ile180Thr
ENST00000414835.7:c.614T>C	ENSP00000411960.3:p.Ile205Thr
ENST00000510025.7:c.539T>C MANE Select	ENSP00000424940.3:p.Ile180Thr
ENST00000643250.1:c.*411T>C	ENSP00000494737.1:n.*411T>C
ENST00000644146.1:c.*117T>C	ENSP00000494808.1:n.*117T>C
ENST00000645099.1:c.98T>C	ENSP00000496091.1:p.Ile33Thr
ENST00000645702.1:c.128T>C	ENSP00000496432.1:p.Ile43Thr
ENST00000645832.1:c.*424T>C	ENSP00000494316.1:n.*424T>C
ENST00000646058.1:c.539T>C	ENSP00000493579.1:p.Ile180Thr
ENST00000646355.1:c.*545T>C	ENSP00000493801.1:n.*545T>C
ENST00000646554.1:c.*517T>C	ENSP00000494542.1:n.*517T>C
ENST00000647335.1:c.*506T>C	ENSP00000495180.1:n.*506T>C
ENST00000647342.1:c.*470T>C	ENSP00000494992.1:n.*470T>C
ENST00000256216.10:c.539T>C	ENSP00000256216.6:p.Ile180Thr
ENST00000414835.6:c.119T>C	ENSP00000411960.2:p.Ile40Thr
ENST00000442060.7:c.539T>C	ENSP00000390208.3:p.Ile180Thr
ENST00000503168.5:n.528T>C
ENST00000504811.5:c.614T>C	ENSP00000420914.1:p.Ile205Thr
ENST00000505181.5:n.242T>C
ENST00000508788.5:n.441T>C
ENST00000509514.5:c.-346T>C	ENSP00000426272.1:n.-346T>C
ENST00000510025.5:c.467T>C	ENSP00000424940.1:p.Ile156Thr
ENST00000512644.1:n.107T>C
ENST00000513628.5:c.128T>C	ENSP00000425993.1:p.Ile43Thr
ENST00000515235.6:n.599T>C
ENST00000515320.5:c.485T>C	ENSP00000424613.1:p.Ile162Thr
NM_000414.3:c.539T>C	NP_000405.1:p.Ile180Thr
NM_001199291.2:c.614T>C	NP_001186220.1:p.Ile205Thr
NM_001199292.1:c.485T>C	NP_001186221.1:p.Ile162Thr
NM_001292027.1:c.467T>C	NP_001278956.1:p.Ile156Thr
NM_001292028.1:c.119T>C	NP_001278957.1:p.Ile40Thr
NM_000414.4:c.539T>C MANE Select	NP_000405.1:p.Ile180Thr
NM_001199291.3:c.614T>C	NP_001186220.1:p.Ile205Thr
NM_001199292.2:c.485T>C	NP_001186221.1:p.Ile162Thr
NM_001292027.2:c.467T>C	NP_001278956.1:p.Ile156Thr
NM_001292028.2:c.119T>C	NP_001278957.1:p.Ile40Thr
NM_001374497.1:c.530T>C	NP_001361426.1:p.Ile177Thr
NM_001374498.1:c.539T>C	NP_001361427.1:p.Ile180Thr
NM_001374499.1:c.212T>C	NP_001361428.1:p.Ile71Thr
NM_001374500.1:c.98T>C	NP_001361429.1:p.Ile33Thr
NM_001374501.1:c.128T>C	NP_001361430.1:p.Ile43Thr
NM_001374502.1:c.128T>C	NP_001361431.1:p.Ile43Thr
NM_001374503.1:c.128T>C	NP_001361432.1:p.Ile43Thr
NR_164653.1:n.618T>C
NR_164654.1:n.806T>C