Canonical Allele Identifier: CA360866373

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1748860891
• gnomAD v3: 5-119478980-C-T
• gnomAD v4: 5-119478980-C-T
• MyVariant Identifiers: chr5:g.118814675C>T (hg19) ; chr5:g.119478980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478980C>T , CM000667.2:g.119478980C>T	GRCh38
NC_000005.9:g.118814675C>T , CM000667.1:g.118814675C>T	GRCh37
NC_000005.8:g.118842574C>T	NCBI36
NG_008182.1:g.31528C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.581C>T	ENSP00000426272.2:p.Pro194Leu
ENST00000518349.6:c.113-17563C>T	ENSP00000507185.1:n.113-17563C>T
ENST00000682445.1:c.*462C>T	ENSP00000508061.1:n.*462C>T
ENST00000682531.1:n.682C>T
ENST00000682626.1:c.*87C>T	ENSP00000507857.1:n.*87C>T
ENST00000682996.1:c.581C>T	ENSP00000507792.1:p.Pro194Leu
ENST00000683265.1:n.674C>T
ENST00000683371.1:c.*711C>T	ENSP00000508376.1:n.*711C>T
ENST00000683390.1:n.2271C>T
ENST00000683549.1:n.502C>T
ENST00000683936.1:c.*466C>T	ENSP00000507721.1:n.*466C>T
ENST00000683974.1:n.663C>T
ENST00000683996.1:c.170C>T	ENSP00000507060.1:p.Pro57Leu
ENST00000684131.1:n.420C>T
ENST00000684160.1:c.*271C>T	ENSP00000507821.1:n.*271C>T
ENST00000684214.1:c.581C>T	ENSP00000508071.1:p.Pro194Leu
ENST00000414835.7:c.656C>T	ENSP00000411960.3:p.Pro219Leu
ENST00000510025.7:c.581C>T MANE Select	ENSP00000424940.3:p.Pro194Leu
ENST00000643250.1:c.*453C>T	ENSP00000494737.1:n.*453C>T
ENST00000644146.1:c.*159C>T	ENSP00000494808.1:n.*159C>T
ENST00000645099.1:c.140C>T	ENSP00000496091.1:p.Pro47Leu
ENST00000645702.1:c.170C>T	ENSP00000496432.1:p.Pro57Leu
ENST00000645832.1:c.*466C>T	ENSP00000494316.1:n.*466C>T
ENST00000646058.1:c.581C>T	ENSP00000493579.1:p.Pro194Leu
ENST00000646355.1:c.*587C>T	ENSP00000493801.1:n.*587C>T
ENST00000646554.1:c.*559C>T	ENSP00000494542.1:n.*559C>T
ENST00000647335.1:c.*548C>T	ENSP00000495180.1:n.*548C>T
ENST00000647342.1:c.*512C>T	ENSP00000494992.1:n.*512C>T
ENST00000256216.10:c.581C>T	ENSP00000256216.6:p.Pro194Leu
ENST00000414835.6:c.161C>T	ENSP00000411960.2:p.Pro54Leu
ENST00000442060.7:c.581C>T	ENSP00000390208.3:p.Pro194Leu
ENST00000503168.5:n.570C>T
ENST00000504811.5:c.656C>T	ENSP00000420914.1:p.Pro219Leu
ENST00000505181.5:n.284C>T
ENST00000509514.5:c.-304C>T	ENSP00000426272.1:n.-304C>T
ENST00000510025.5:c.509C>T	ENSP00000424940.1:p.Pro170Leu
ENST00000512644.1:n.149C>T
ENST00000513628.5:c.170C>T	ENSP00000425993.1:p.Pro57Leu
ENST00000515235.6:n.641C>T
ENST00000515320.5:c.527C>T	ENSP00000424613.1:p.Pro176Leu
NM_000414.3:c.581C>T	NP_000405.1:p.Pro194Leu
NM_001199291.2:c.656C>T	NP_001186220.1:p.Pro219Leu
NM_001199292.1:c.527C>T	NP_001186221.1:p.Pro176Leu
NM_001292027.1:c.509C>T	NP_001278956.1:p.Pro170Leu
NM_001292028.1:c.161C>T	NP_001278957.1:p.Pro54Leu
NM_000414.4:c.581C>T MANE Select	NP_000405.1:p.Pro194Leu
NM_001199291.3:c.656C>T	NP_001186220.1:p.Pro219Leu
NM_001199292.2:c.527C>T	NP_001186221.1:p.Pro176Leu
NM_001292027.2:c.509C>T	NP_001278956.1:p.Pro170Leu
NM_001292028.2:c.161C>T	NP_001278957.1:p.Pro54Leu
NM_001374497.1:c.572C>T	NP_001361426.1:p.Pro191Leu
NM_001374498.1:c.581C>T	NP_001361427.1:p.Pro194Leu
NM_001374499.1:c.254C>T	NP_001361428.1:p.Pro85Leu
NM_001374500.1:c.140C>T	NP_001361429.1:p.Pro47Leu
NM_001374501.1:c.170C>T	NP_001361430.1:p.Pro57Leu
NM_001374502.1:c.170C>T	NP_001361431.1:p.Pro57Leu
NM_001374503.1:c.170C>T	NP_001361432.1:p.Pro57Leu
NR_164653.1:n.660C>T
NR_164654.1:n.848C>T