Canonical Allele Identifier: CA360871094

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119531320-G-A
• MyVariant Identifiers: chr5:g.118867015G>A (hg19) ; chr5:g.119531320G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531320G>A , CM000667.2:g.119531320G>A	GRCh38
NC_000005.9:g.118867015G>A , CM000667.1:g.118867015G>A	GRCh37
NC_000005.8:g.118894914G>A	NCBI36
NG_008182.1:g.83868G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1840G>A	ENSP00000426272.2:p.Asp614Asn
ENST00000518349.6:c.1153G>A	ENSP00000507185.1:p.Asp385Asn
ENST00000682445.1:c.*1790G>A	ENSP00000508061.1:n.*1790G>A
ENST00000682531.1:n.3801G>A
ENST00000682626.1:c.*1415G>A	ENSP00000507857.1:n.*1415G>A
ENST00000682996.1:c.1837G>A	ENSP00000507792.1:p.Asp613Asn
ENST00000683265.1:n.3695G>A
ENST00000683335.1:n.3311G>A
ENST00000683371.1:c.*2039G>A	ENSP00000508376.1:n.*2039G>A
ENST00000683372.1:n.3919G>A
ENST00000683390.1:n.3599G>A
ENST00000683476.1:n.751G>A
ENST00000683549.1:n.3523G>A
ENST00000683936.1:c.*3487G>A	ENSP00000507721.1:n.*3487G>A
ENST00000683974.1:n.3638G>A
ENST00000683996.1:c.*1119G>A	ENSP00000507060.1:n.*1119G>A
ENST00000684131.1:n.3441G>A
ENST00000684160.1:c.*1599G>A	ENSP00000507821.1:n.*1599G>A
ENST00000684214.1:c.1854+1340G>A	ENSP00000508071.1:n.1854+1340G>A
ENST00000414835.7:c.1984G>A	ENSP00000411960.3:p.Asp662Asn
ENST00000510025.7:c.1909G>A MANE Select	ENSP00000424940.3:p.Asp637Asn
ENST00000643250.1:c.*1781G>A	ENSP00000494737.1:n.*1781G>A
ENST00000644146.1:c.*3180G>A	ENSP00000494808.1:n.*3180G>A
ENST00000645099.1:c.1468G>A	ENSP00000496091.1:p.Asp490Asn
ENST00000645702.1:c.*1312G>A	ENSP00000496432.1:n.*1312G>A
ENST00000645832.1:c.*1794G>A	ENSP00000494316.1:n.*1794G>A
ENST00000646058.1:c.1909G>A	ENSP00000493579.1:p.Asp637Asn
ENST00000646355.1:c.*1915G>A	ENSP00000493801.1:n.*1915G>A
ENST00000646554.1:c.*1887G>A	ENSP00000494542.1:n.*1887G>A
ENST00000647335.1:c.*1876G>A	ENSP00000495180.1:n.*1876G>A
ENST00000647342.1:c.*1840G>A	ENSP00000494992.1:n.*1840G>A
ENST00000256216.10:c.1909G>A	ENSP00000256216.6:p.Asp637Asn
ENST00000414835.6:c.1489G>A	ENSP00000411960.2:p.Asp497Asn
ENST00000442060.7:c.*464G>A	ENSP00000390208.3:n.*464G>A
ENST00000504811.5:c.1984G>A	ENSP00000420914.1:p.Asp662Asn
ENST00000509514.5:c.1123G>A	ENSP00000426272.1:p.Asp375Asn
ENST00000509606.1:n.204G>A
ENST00000509951.5:n.309+1340G>A
ENST00000510025.5:c.1837G>A	ENSP00000424940.1:p.Asp613Asn
ENST00000513628.5:c.1498G>A	ENSP00000425993.1:p.Asp500Asn
ENST00000515235.6:n.3662G>A
ENST00000515320.5:c.1855G>A	ENSP00000424613.1:p.Asp619Asn
ENST00000522415.5:n.576G>A
NM_000414.3:c.1909G>A	NP_000405.1:p.Asp637Asn
NM_001199291.2:c.1984G>A	NP_001186220.1:p.Asp662Asn
NM_001199292.1:c.1855G>A	NP_001186221.1:p.Asp619Asn
NM_001292027.1:c.1837G>A	NP_001278956.1:p.Asp613Asn
NM_001292028.1:c.1489G>A	NP_001278957.1:p.Asp497Asn
NM_000414.4:c.1909G>A MANE Select	NP_000405.1:p.Asp637Asn
NM_001199291.3:c.1984G>A	NP_001186220.1:p.Asp662Asn
NM_001199292.2:c.1855G>A	NP_001186221.1:p.Asp619Asn
NM_001292027.2:c.1837G>A	NP_001278956.1:p.Asp613Asn
NM_001292028.2:c.1489G>A	NP_001278957.1:p.Asp497Asn
NM_001374497.1:c.1900G>A	NP_001361426.1:p.Asp634Asn
NM_001374498.1:c.1837G>A	NP_001361427.1:p.Asp613Asn
NM_001374499.1:c.1582G>A	NP_001361428.1:p.Asp528Asn
NM_001374500.1:c.1468G>A	NP_001361429.1:p.Asp490Asn
NM_001374501.1:c.1498G>A	NP_001361430.1:p.Asp500Asn
NM_001374502.1:c.1498G>A	NP_001361431.1:p.Asp500Asn
NM_001374503.1:c.1498G>A	NP_001361432.1:p.Asp500Asn
NR_164653.1:n.2006G>A
NR_164654.1:n.2274G>A