Canonical Allele Identifier: CA360866374

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119478982-A-C
• MyVariant Identifiers: chr5:g.118814677A>C (hg19) ; chr5:g.119478982A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478982A>C , CM000667.2:g.119478982A>C	GRCh38
NC_000005.9:g.118814677A>C , CM000667.1:g.118814677A>C	GRCh37
NC_000005.8:g.118842576A>C	NCBI36
NG_008182.1:g.31530A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.583A>C	ENSP00000426272.2:p.Asn195His
ENST00000518349.6:c.113-17561A>C	ENSP00000507185.1:n.113-17561A>C
ENST00000682445.1:c.*464A>C	ENSP00000508061.1:n.*464A>C
ENST00000682531.1:n.684A>C
ENST00000682626.1:c.*89A>C	ENSP00000507857.1:n.*89A>C
ENST00000682996.1:c.583A>C	ENSP00000507792.1:p.Asn195His
ENST00000683265.1:n.676A>C
ENST00000683371.1:c.*713A>C	ENSP00000508376.1:n.*713A>C
ENST00000683390.1:n.2273A>C
ENST00000683549.1:n.504A>C
ENST00000683936.1:c.*468A>C	ENSP00000507721.1:n.*468A>C
ENST00000683974.1:n.665A>C
ENST00000683996.1:c.172A>C	ENSP00000507060.1:p.Asn58His
ENST00000684131.1:n.422A>C
ENST00000684160.1:c.*273A>C	ENSP00000507821.1:n.*273A>C
ENST00000684214.1:c.583A>C	ENSP00000508071.1:p.Asn195His
ENST00000414835.7:c.658A>C	ENSP00000411960.3:p.Asn220His
ENST00000510025.7:c.583A>C MANE Select	ENSP00000424940.3:p.Asn195His
ENST00000643250.1:c.*455A>C	ENSP00000494737.1:n.*455A>C
ENST00000644146.1:c.*161A>C	ENSP00000494808.1:n.*161A>C
ENST00000645099.1:c.142A>C	ENSP00000496091.1:p.Asn48His
ENST00000645702.1:c.172A>C	ENSP00000496432.1:p.Asn58His
ENST00000645832.1:c.*468A>C	ENSP00000494316.1:n.*468A>C
ENST00000646058.1:c.583A>C	ENSP00000493579.1:p.Asn195His
ENST00000646355.1:c.*589A>C	ENSP00000493801.1:n.*589A>C
ENST00000646554.1:c.*561A>C	ENSP00000494542.1:n.*561A>C
ENST00000647335.1:c.*550A>C	ENSP00000495180.1:n.*550A>C
ENST00000647342.1:c.*514A>C	ENSP00000494992.1:n.*514A>C
ENST00000256216.10:c.583A>C	ENSP00000256216.6:p.Asn195His
ENST00000414835.6:c.163A>C	ENSP00000411960.2:p.Asn55His
ENST00000442060.7:c.583A>C	ENSP00000390208.3:p.Asn195His
ENST00000503168.5:n.572A>C
ENST00000504811.5:c.658A>C	ENSP00000420914.1:p.Asn220His
ENST00000505181.5:n.286A>C
ENST00000509514.5:c.-302A>C	ENSP00000426272.1:n.-302A>C
ENST00000510025.5:c.511A>C	ENSP00000424940.1:p.Asn171His
ENST00000512644.1:n.151A>C
ENST00000513628.5:c.172A>C	ENSP00000425993.1:p.Asn58His
ENST00000515235.6:n.643A>C
ENST00000515320.5:c.529A>C	ENSP00000424613.1:p.Asn177His
NM_000414.3:c.583A>C	NP_000405.1:p.Asn195His
NM_001199291.2:c.658A>C	NP_001186220.1:p.Asn220His
NM_001199292.1:c.529A>C	NP_001186221.1:p.Asn177His
NM_001292027.1:c.511A>C	NP_001278956.1:p.Asn171His
NM_001292028.1:c.163A>C	NP_001278957.1:p.Asn55His
NM_000414.4:c.583A>C MANE Select	NP_000405.1:p.Asn195His
NM_001199291.3:c.658A>C	NP_001186220.1:p.Asn220His
NM_001199292.2:c.529A>C	NP_001186221.1:p.Asn177His
NM_001292027.2:c.511A>C	NP_001278956.1:p.Asn171His
NM_001292028.2:c.163A>C	NP_001278957.1:p.Asn55His
NM_001374497.1:c.574A>C	NP_001361426.1:p.Asn192His
NM_001374498.1:c.583A>C	NP_001361427.1:p.Asn195His
NM_001374499.1:c.256A>C	NP_001361428.1:p.Asn86His
NM_001374500.1:c.142A>C	NP_001361429.1:p.Asn48His
NM_001374501.1:c.172A>C	NP_001361430.1:p.Asn58His
NM_001374502.1:c.172A>C	NP_001361431.1:p.Asn58His
NM_001374503.1:c.172A>C	NP_001361432.1:p.Asn58His
NR_164653.1:n.662A>C
NR_164654.1:n.850A>C