Canonical Allele Identifier: CA360866415

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119479001-C-T
• MyVariant Identifiers: chr5:g.118814696C>T (hg19) ; chr5:g.119479001C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479001C>T , CM000667.2:g.119479001C>T	GRCh38
NC_000005.9:g.118814696C>T , CM000667.1:g.118814696C>T	GRCh37
NC_000005.8:g.118842595C>T	NCBI36
NG_008182.1:g.31549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.602C>T	ENSP00000426272.2:p.Thr201Ile
ENST00000518349.6:c.113-17542C>T	ENSP00000507185.1:n.113-17542C>T
ENST00000682445.1:c.*483C>T	ENSP00000508061.1:n.*483C>T
ENST00000682531.1:n.703C>T
ENST00000682626.1:c.*108C>T	ENSP00000507857.1:n.*108C>T
ENST00000682996.1:c.602C>T	ENSP00000507792.1:p.Thr201Ile
ENST00000683265.1:n.695C>T
ENST00000683371.1:c.*732C>T	ENSP00000508376.1:n.*732C>T
ENST00000683390.1:n.2292C>T
ENST00000683549.1:n.523C>T
ENST00000683936.1:c.*487C>T	ENSP00000507721.1:n.*487C>T
ENST00000683974.1:n.684C>T
ENST00000683996.1:c.191C>T	ENSP00000507060.1:p.Thr64Ile
ENST00000684131.1:n.441C>T
ENST00000684160.1:c.*292C>T	ENSP00000507821.1:n.*292C>T
ENST00000684214.1:c.602C>T	ENSP00000508071.1:p.Thr201Ile
ENST00000414835.7:c.677C>T	ENSP00000411960.3:p.Thr226Ile
ENST00000510025.7:c.602C>T MANE Select	ENSP00000424940.3:p.Thr201Ile
ENST00000643250.1:c.*474C>T	ENSP00000494737.1:n.*474C>T
ENST00000644146.1:c.*180C>T	ENSP00000494808.1:n.*180C>T
ENST00000645099.1:c.161C>T	ENSP00000496091.1:p.Thr54Ile
ENST00000645702.1:c.191C>T	ENSP00000496432.1:p.Thr64Ile
ENST00000645832.1:c.*487C>T	ENSP00000494316.1:n.*487C>T
ENST00000646058.1:c.602C>T	ENSP00000493579.1:p.Thr201Ile
ENST00000646355.1:c.*608C>T	ENSP00000493801.1:n.*608C>T
ENST00000646554.1:c.*580C>T	ENSP00000494542.1:n.*580C>T
ENST00000647335.1:c.*569C>T	ENSP00000495180.1:n.*569C>T
ENST00000647342.1:c.*533C>T	ENSP00000494992.1:n.*533C>T
ENST00000256216.10:c.602C>T	ENSP00000256216.6:p.Thr201Ile
ENST00000414835.6:c.182C>T	ENSP00000411960.2:p.Thr61Ile
ENST00000442060.7:c.602C>T	ENSP00000390208.3:p.Thr201Ile
ENST00000504811.5:c.677C>T	ENSP00000420914.1:p.Thr226Ile
ENST00000505181.5:n.305C>T
ENST00000509514.5:c.-283C>T	ENSP00000426272.1:n.-283C>T
ENST00000510025.5:c.530C>T	ENSP00000424940.1:p.Thr177Ile
ENST00000512644.1:n.170C>T
ENST00000513628.5:c.191C>T	ENSP00000425993.1:p.Thr64Ile
ENST00000515235.6:n.662C>T
ENST00000515320.5:c.548C>T	ENSP00000424613.1:p.Thr183Ile
NM_000414.3:c.602C>T	NP_000405.1:p.Thr201Ile
NM_001199291.2:c.677C>T	NP_001186220.1:p.Thr226Ile
NM_001199292.1:c.548C>T	NP_001186221.1:p.Thr183Ile
NM_001292027.1:c.530C>T	NP_001278956.1:p.Thr177Ile
NM_001292028.1:c.182C>T	NP_001278957.1:p.Thr61Ile
NM_000414.4:c.602C>T MANE Select	NP_000405.1:p.Thr201Ile
NM_001199291.3:c.677C>T	NP_001186220.1:p.Thr226Ile
NM_001199292.2:c.548C>T	NP_001186221.1:p.Thr183Ile
NM_001292027.2:c.530C>T	NP_001278956.1:p.Thr177Ile
NM_001292028.2:c.182C>T	NP_001278957.1:p.Thr61Ile
NM_001374497.1:c.593C>T	NP_001361426.1:p.Thr198Ile
NM_001374498.1:c.602C>T	NP_001361427.1:p.Thr201Ile
NM_001374499.1:c.275C>T	NP_001361428.1:p.Thr92Ile
NM_001374500.1:c.161C>T	NP_001361429.1:p.Thr54Ile
NM_001374501.1:c.191C>T	NP_001361430.1:p.Thr64Ile
NM_001374502.1:c.191C>T	NP_001361431.1:p.Thr64Ile
NM_001374503.1:c.191C>T	NP_001361432.1:p.Thr64Ile
NR_164653.1:n.681C>T
NR_164654.1:n.869C>T