Canonical Allele Identifier: CA118960

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 7655
• ClinVar RCV Id: RCV000008094 ; RCV000415821 ; RCV000688945 ; RCV000779455 ; RCV001197145 ; RCV002512888
• dbSNP Id: rs137853096
• ExAC: 5:118788316 G / A
• gnomAD v2: 5-118788316-G-A
• gnomAD v3: 5-119452621-G-A
• gnomAD v4: 5-119452621-G-A
• MyVariant Identifiers: chr5:g.118788316G>A (hg19) ; chr5:g.119452621G>A (hg38)
• PubMed: PMID:9482850 ; PMID:9915948 ; PMID:16385454 ; PMID:23891399 ; PMID:25967389

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119452621G>A , CM000667.2:g.119452621G>A	GRCh38
NC_000005.9:g.118788316G>A , CM000667.1:g.118788316G>A	GRCh37
NC_000005.8:g.118816215G>A	NCBI36
NG_008182.1:g.5169G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.46G>A	ENSP00000426272.2:p.Gly16Ser
ENST00000512841.6:n.87G>A
ENST00000518349.6:c.46G>A	ENSP00000507185.1:p.Gly16Ser
ENST00000682445.1:c.46G>A	ENSP00000508061.1:p.Gly16Ser
ENST00000682996.1:c.46G>A	ENSP00000507792.1:p.Gly16Ser
ENST00000683371.1:c.46G>A	ENSP00000508376.1:p.Gly16Ser
ENST00000683390.1:n.94G>A
ENST00000683936.1:c.46G>A	ENSP00000507721.1:p.Gly16Ser
ENST00000683974.1:n.128G>A
ENST00000684214.1:c.46G>A	ENSP00000508071.1:p.Gly16Ser
ENST00000414835.7:c.-133G>A	ENSP00000411960.3:n.-133G>A
ENST00000510025.7:c.46G>A MANE Select	ENSP00000424940.3:p.Gly16Ser
ENST00000644146.1:c.46G>A	ENSP00000494808.1:p.Gly16Ser
ENST00000645832.1:c.46G>A	ENSP00000494316.1:p.Gly16Ser
ENST00000646058.1:c.46G>A	ENSP00000493579.1:p.Gly16Ser
ENST00000646590.1:c.46G>A	ENSP00000494892.1:p.Gly16Ser
ENST00000256216.10:c.46G>A	ENSP00000256216.6:p.Gly16Ser
ENST00000442060.7:c.46G>A	ENSP00000390208.3:p.Gly16Ser
ENST00000504811.5:c.-133G>A	ENSP00000420914.1:n.-133G>A
ENST00000510025.5:c.-92G>A	ENSP00000424940.1:n.-92G>A
ENST00000511186.5:n.149G>A
ENST00000515235.6:n.106G>A
ENST00000515320.5:c.46G>A	ENSP00000424613.1:p.Gly16Ser
ENST00000519184.5:n.57G>A
NM_000414.3:c.46G>A	NP_000405.1:p.Gly16Ser
NM_001199291.2:c.-133G>A	NP_001186220.1:n.-133G>A
NM_001199292.1:c.46G>A	NP_001186221.1:p.Gly16Ser
NM_001292027.1:c.-92G>A	NP_001278956.1:n.-92G>A
NM_001292028.1:c.-554G>A	NP_001278957.1:n.-554G>A
NM_000414.4:c.46G>A MANE Select	NP_000405.1:p.Gly16Ser
NM_001199291.3:c.-133G>A	NP_001186220.1:n.-133G>A
NM_001199292.2:c.46G>A	NP_001186221.1:p.Gly16Ser
NM_001292027.2:c.-92G>A	NP_001278956.1:n.-92G>A
NM_001292028.2:c.-554G>A	NP_001278957.1:n.-554G>A
NM_001374497.1:c.46G>A	NP_001361426.1:p.Gly16Ser
NM_001374498.1:c.46G>A	NP_001361427.1:p.Gly16Ser
NM_001374499.1:c.-488G>A	NP_001361428.1:n.-488G>A
NM_001374500.1:c.-681G>A	NP_001361429.1:n.-681G>A
NM_001374501.1:c.-554G>A	NP_001361430.1:n.-554G>A
NM_001374502.1:c.-559G>A	NP_001361431.1:n.-559G>A
NM_001374503.1:c.-624G>A	NP_001361432.1:n.-624G>A
NR_164653.1:n.125G>A
NR_164654.1:n.125G>A