Canonical Allele Identifier: CA360871114

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118867019T>C (hg19) ; chr5:g.119531324T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531324T>C , CM000667.2:g.119531324T>C	GRCh38
NC_000005.9:g.118867019T>C , CM000667.1:g.118867019T>C	GRCh37
NC_000005.8:g.118894918T>C	NCBI36
NG_008182.1:g.83872T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1844T>C	ENSP00000426272.2:p.Ile615Thr
ENST00000518349.6:c.1157T>C	ENSP00000507185.1:p.Ile386Thr
ENST00000682445.1:c.*1794T>C	ENSP00000508061.1:n.*1794T>C
ENST00000682531.1:n.3805T>C
ENST00000682626.1:c.*1419T>C	ENSP00000507857.1:n.*1419T>C
ENST00000682996.1:c.1841T>C	ENSP00000507792.1:p.Ile614Thr
ENST00000683265.1:n.3699T>C
ENST00000683335.1:n.3315T>C
ENST00000683371.1:c.*2043T>C	ENSP00000508376.1:n.*2043T>C
ENST00000683372.1:n.3923T>C
ENST00000683390.1:n.3603T>C
ENST00000683476.1:n.755T>C
ENST00000683549.1:n.3527T>C
ENST00000683936.1:c.*3491T>C	ENSP00000507721.1:n.*3491T>C
ENST00000683974.1:n.3642T>C
ENST00000683996.1:c.*1123T>C	ENSP00000507060.1:n.*1123T>C
ENST00000684131.1:n.3445T>C
ENST00000684160.1:c.*1603T>C	ENSP00000507821.1:n.*1603T>C
ENST00000684214.1:c.1854+1344T>C	ENSP00000508071.1:n.1854+1344T>C
ENST00000414835.7:c.1988T>C	ENSP00000411960.3:p.Ile663Thr
ENST00000510025.7:c.1913T>C MANE Select	ENSP00000424940.3:p.Ile638Thr
ENST00000643250.1:c.*1785T>C	ENSP00000494737.1:n.*1785T>C
ENST00000644146.1:c.*3184T>C	ENSP00000494808.1:n.*3184T>C
ENST00000645099.1:c.1472T>C	ENSP00000496091.1:p.Ile491Thr
ENST00000645702.1:c.*1316T>C	ENSP00000496432.1:n.*1316T>C
ENST00000645832.1:c.*1798T>C	ENSP00000494316.1:n.*1798T>C
ENST00000646058.1:c.1913T>C	ENSP00000493579.1:p.Ile638Thr
ENST00000646355.1:c.*1919T>C	ENSP00000493801.1:n.*1919T>C
ENST00000646554.1:c.*1891T>C	ENSP00000494542.1:n.*1891T>C
ENST00000647335.1:c.*1880T>C	ENSP00000495180.1:n.*1880T>C
ENST00000647342.1:c.*1844T>C	ENSP00000494992.1:n.*1844T>C
ENST00000256216.10:c.1913T>C	ENSP00000256216.6:p.Ile638Thr
ENST00000414835.6:c.1493T>C	ENSP00000411960.2:p.Ile498Thr
ENST00000442060.7:c.*468T>C	ENSP00000390208.3:n.*468T>C
ENST00000504811.5:c.1988T>C	ENSP00000420914.1:p.Ile663Thr
ENST00000509514.5:c.1127T>C	ENSP00000426272.1:p.Ile376Thr
ENST00000509606.1:n.208T>C
ENST00000509951.5:n.309+1344T>C
ENST00000510025.5:c.1841T>C	ENSP00000424940.1:p.Ile614Thr
ENST00000513628.5:c.1502T>C	ENSP00000425993.1:p.Ile501Thr
ENST00000515235.6:n.3666T>C
ENST00000515320.5:c.1859T>C	ENSP00000424613.1:p.Ile620Thr
ENST00000522415.5:n.580T>C
NM_000414.3:c.1913T>C	NP_000405.1:p.Ile638Thr
NM_001199291.2:c.1988T>C	NP_001186220.1:p.Ile663Thr
NM_001199292.1:c.1859T>C	NP_001186221.1:p.Ile620Thr
NM_001292027.1:c.1841T>C	NP_001278956.1:p.Ile614Thr
NM_001292028.1:c.1493T>C	NP_001278957.1:p.Ile498Thr
NM_000414.4:c.1913T>C MANE Select	NP_000405.1:p.Ile638Thr
NM_001199291.3:c.1988T>C	NP_001186220.1:p.Ile663Thr
NM_001199292.2:c.1859T>C	NP_001186221.1:p.Ile620Thr
NM_001292027.2:c.1841T>C	NP_001278956.1:p.Ile614Thr
NM_001292028.2:c.1493T>C	NP_001278957.1:p.Ile498Thr
NM_001374497.1:c.1904T>C	NP_001361426.1:p.Ile635Thr
NM_001374498.1:c.1841T>C	NP_001361427.1:p.Ile614Thr
NM_001374499.1:c.1586T>C	NP_001361428.1:p.Ile529Thr
NM_001374500.1:c.1472T>C	NP_001361429.1:p.Ile491Thr
NM_001374501.1:c.1502T>C	NP_001361430.1:p.Ile501Thr
NM_001374502.1:c.1502T>C	NP_001361431.1:p.Ile501Thr
NM_001374503.1:c.1502T>C	NP_001361432.1:p.Ile501Thr
NR_164653.1:n.2010T>C
NR_164654.1:n.2278T>C