Canonical Allele Identifier: CA360866308

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119478951-A-C
• MyVariant Identifiers: chr5:g.118814646A>C (hg19) ; chr5:g.119478951A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478951A>C , CM000667.2:g.119478951A>C	GRCh38
NC_000005.9:g.118814646A>C , CM000667.1:g.118814646A>C	GRCh37
NC_000005.8:g.118842545A>C	NCBI36
NG_008182.1:g.31499A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.552A>C	ENSP00000426272.2:p.Lys184Asn
ENST00000518349.6:c.113-17592A>C	ENSP00000507185.1:n.113-17592A>C
ENST00000682445.1:c.*433A>C	ENSP00000508061.1:n.*433A>C
ENST00000682531.1:n.653A>C
ENST00000682626.1:c.*58A>C	ENSP00000507857.1:n.*58A>C
ENST00000682996.1:c.552A>C	ENSP00000507792.1:p.Lys184Asn
ENST00000683265.1:n.645A>C
ENST00000683371.1:c.*682A>C	ENSP00000508376.1:n.*682A>C
ENST00000683390.1:n.2242A>C
ENST00000683549.1:n.473A>C
ENST00000683936.1:c.*437A>C	ENSP00000507721.1:n.*437A>C
ENST00000683974.1:n.634A>C
ENST00000683996.1:c.141A>C	ENSP00000507060.1:p.Lys47Asn
ENST00000684131.1:n.391A>C
ENST00000684160.1:c.*242A>C	ENSP00000507821.1:n.*242A>C
ENST00000684214.1:c.552A>C	ENSP00000508071.1:p.Lys184Asn
ENST00000414835.7:c.627A>C	ENSP00000411960.3:p.Lys209Asn
ENST00000510025.7:c.552A>C MANE Select	ENSP00000424940.3:p.Lys184Asn
ENST00000643250.1:c.*424A>C	ENSP00000494737.1:n.*424A>C
ENST00000644146.1:c.*130A>C	ENSP00000494808.1:n.*130A>C
ENST00000645099.1:c.111A>C	ENSP00000496091.1:p.Lys37Asn
ENST00000645702.1:c.141A>C	ENSP00000496432.1:p.Lys47Asn
ENST00000645832.1:c.*437A>C	ENSP00000494316.1:n.*437A>C
ENST00000646058.1:c.552A>C	ENSP00000493579.1:p.Lys184Asn
ENST00000646355.1:c.*558A>C	ENSP00000493801.1:n.*558A>C
ENST00000646554.1:c.*530A>C	ENSP00000494542.1:n.*530A>C
ENST00000647335.1:c.*519A>C	ENSP00000495180.1:n.*519A>C
ENST00000647342.1:c.*483A>C	ENSP00000494992.1:n.*483A>C
ENST00000256216.10:c.552A>C	ENSP00000256216.6:p.Lys184Asn
ENST00000414835.6:c.132A>C	ENSP00000411960.2:p.Lys44Asn
ENST00000442060.7:c.552A>C	ENSP00000390208.3:p.Lys184Asn
ENST00000503168.5:n.541A>C
ENST00000504811.5:c.627A>C	ENSP00000420914.1:p.Lys209Asn
ENST00000505181.5:n.255A>C
ENST00000509514.5:c.-333A>C	ENSP00000426272.1:n.-333A>C
ENST00000510025.5:c.480A>C	ENSP00000424940.1:p.Lys160Asn
ENST00000512644.1:n.120A>C
ENST00000513628.5:c.141A>C	ENSP00000425993.1:p.Lys47Asn
ENST00000515235.6:n.612A>C
ENST00000515320.5:c.498A>C	ENSP00000424613.1:p.Lys166Asn
NM_000414.3:c.552A>C	NP_000405.1:p.Lys184Asn
NM_001199291.2:c.627A>C	NP_001186220.1:p.Lys209Asn
NM_001199292.1:c.498A>C	NP_001186221.1:p.Lys166Asn
NM_001292027.1:c.480A>C	NP_001278956.1:p.Lys160Asn
NM_001292028.1:c.132A>C	NP_001278957.1:p.Lys44Asn
NM_000414.4:c.552A>C MANE Select	NP_000405.1:p.Lys184Asn
NM_001199291.3:c.627A>C	NP_001186220.1:p.Lys209Asn
NM_001199292.2:c.498A>C	NP_001186221.1:p.Lys166Asn
NM_001292027.2:c.480A>C	NP_001278956.1:p.Lys160Asn
NM_001292028.2:c.132A>C	NP_001278957.1:p.Lys44Asn
NM_001374497.1:c.543A>C	NP_001361426.1:p.Lys181Asn
NM_001374498.1:c.552A>C	NP_001361427.1:p.Lys184Asn
NM_001374499.1:c.225A>C	NP_001361428.1:p.Lys75Asn
NM_001374500.1:c.111A>C	NP_001361429.1:p.Lys37Asn
NM_001374501.1:c.141A>C	NP_001361430.1:p.Lys47Asn
NM_001374502.1:c.141A>C	NP_001361431.1:p.Lys47Asn
NM_001374503.1:c.141A>C	NP_001361432.1:p.Lys47Asn
NR_164653.1:n.631A>C
NR_164654.1:n.819A>C