Canonical Allele Identifier: CA446040709

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 2943291
• ClinVar RCV Id: RCV003800409
• gnomAD v4: 5-119475716-C-A
• MyVariant Identifiers: chr5:g.118811411C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119475716C>A , CM000667.2:g.119475716C>A	GRCh38
NC_000005.9:g.118811411C>A , CM000667.1:g.118811411C>A	GRCh37
NC_000005.8:g.118839310C>A	NCBI36
NG_008182.1:g.28264C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.291C>A	ENSP00000426272.2:p.Val97=
ENST00000518349.6:c.112+19348C>A	ENSP00000507185.1:n.112+19348C>A
ENST00000682445.1:c.*172C>A	ENSP00000508061.1:n.*172C>A
ENST00000682531.1:n.392C>A
ENST00000682626.1:c.366C>A	ENSP00000507857.1:p.Val122=
ENST00000682996.1:c.291C>A	ENSP00000507792.1:p.Val97=
ENST00000683265.1:n.384C>A
ENST00000683371.1:c.*421C>A	ENSP00000508376.1:n.*421C>A
ENST00000683390.1:n.339C>A
ENST00000683936.1:c.*176C>A	ENSP00000507721.1:n.*176C>A
ENST00000683974.1:n.373C>A
ENST00000684160.1:c.366C>A	ENSP00000507821.1:p.Val122=
ENST00000684214.1:c.291C>A	ENSP00000508071.1:p.Val97=
ENST00000414835.7:c.366C>A	ENSP00000411960.3:p.Val122=
ENST00000510025.7:c.291C>A MANE Select	ENSP00000424940.3:p.Val97=
ENST00000643250.1:c.*172C>A	ENSP00000494737.1:n.*172C>A
ENST00000644146.1:c.291C>A	ENSP00000494808.1:p.Val97=
ENST00000645832.1:c.*176C>A	ENSP00000494316.1:n.*176C>A
ENST00000646058.1:c.291C>A	ENSP00000493579.1:p.Val97=
ENST00000646355.1:c.*297C>A	ENSP00000493801.1:n.*297C>A
ENST00000646554.1:c.*172C>A	ENSP00000494542.1:n.*172C>A
ENST00000646590.1:c.291C>A	ENSP00000494892.1:p.Val97=
ENST00000647335.1:c.*258C>A	ENSP00000495180.1:n.*258C>A
ENST00000647342.1:c.*172C>A	ENSP00000494992.1:n.*172C>A
ENST00000256216.10:c.291C>A	ENSP00000256216.6:p.Val97=
ENST00000414835.6:c.-121C>A	ENSP00000411960.2:n.-121C>A
ENST00000442060.7:c.291C>A	ENSP00000390208.3:p.Val97=
ENST00000503168.5:n.280C>A
ENST00000504811.5:c.366C>A	ENSP00000420914.1:p.Val122=
ENST00000507695.1:n.263C>A
ENST00000510025.5:c.219C>A	ENSP00000424940.1:p.Val73=
ENST00000511186.5:n.422C>A
ENST00000512841.5:n.339C>A
ENST00000515235.6:n.351C>A
ENST00000515320.5:c.237C>A	ENSP00000424613.1:p.Val79=
NM_000414.3:c.291C>A	NP_000405.1:p.Val97=
NM_001199291.2:c.366C>A	NP_001186220.1:p.Val122=
NM_001199292.1:c.237C>A	NP_001186221.1:p.Val79=
NM_001292027.1:c.219C>A	NP_001278956.1:p.Val73=
NM_001292028.1:c.-121C>A	NP_001278957.1:n.-121C>A
NM_000414.4:c.291C>A MANE Select	NP_000405.1:p.Val97=
NM_001199291.3:c.366C>A	NP_001186220.1:p.Val122=
NM_001199292.2:c.237C>A	NP_001186221.1:p.Val79=
NM_001292027.2:c.219C>A	NP_001278956.1:p.Val73=
NM_001292028.2:c.-121C>A	NP_001278957.1:n.-121C>A
NM_001374497.1:c.291C>A	NP_001361426.1:p.Val97=
NM_001374498.1:c.291C>A	NP_001361427.1:p.Val97=
NM_001374499.1:c.11C>A	NP_001361428.1:p.Ser4Ter
NM_001374500.1:c.-248C>A	NP_001361429.1:n.-248C>A
NM_001374501.1:c.-121C>A	NP_001361430.1:n.-121C>A
NM_001374502.1:c.-121C>A	NP_001361431.1:n.-121C>A
NM_001374503.1:c.-121C>A	NP_001361432.1:n.-121C>A
NR_164653.1:n.370C>A
NR_164654.1:n.558C>A