Canonical Allele Identifier: CA3381857

Gene: HSD17B4

Linked Data

• dbSNP Id: rs374797053
• ExAC: 5:118814503 T / C
• gnomAD v2: 5-118814503-T-C
• gnomAD v3: 5-119478808-T-C
• gnomAD v4: 5-119478808-T-C
• MyVariant Identifiers: chr5:g.118814503T>C (hg19) ; chr5:g.119478808T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478808T>C , CM000667.2:g.119478808T>C	GRCh38
NC_000005.9:g.118814503T>C , CM000667.1:g.118814503T>C	GRCh37
NC_000005.8:g.118842402T>C	NCBI36
NG_008182.1:g.31356T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.435-26T>C	ENSP00000426272.2:n.435-26T>C
ENST00000518349.6:c.113-17735T>C	ENSP00000507185.1:n.113-17735T>C
ENST00000682445.1:c.*316-26T>C	ENSP00000508061.1:n.*316-26T>C
ENST00000682531.1:n.536-26T>C
ENST00000682626.1:c.463-26T>C	ENSP00000507857.1:n.463-26T>C
ENST00000682996.1:c.435-26T>C	ENSP00000507792.1:n.435-26T>C
ENST00000683265.1:n.528-26T>C
ENST00000683371.1:c.*565-26T>C	ENSP00000508376.1:n.*565-26T>C
ENST00000683390.1:n.2125-26T>C
ENST00000683549.1:n.356-26T>C
ENST00000683936.1:c.*320-26T>C	ENSP00000507721.1:n.*320-26T>C
ENST00000683974.1:n.517-26T>C
ENST00000683996.1:c.24-26T>C	ENSP00000507060.1:n.24-26T>C
ENST00000684131.1:n.274-26T>C
ENST00000684160.1:c.*125-26T>C	ENSP00000507821.1:n.*125-26T>C
ENST00000684214.1:c.435-26T>C	ENSP00000508071.1:n.435-26T>C
ENST00000414835.7:c.510-26T>C	ENSP00000411960.3:n.510-26T>C
ENST00000510025.7:c.435-26T>C MANE Select	ENSP00000424940.3:n.435-26T>C
ENST00000643250.1:c.*307-26T>C	ENSP00000494737.1:n.*307-26T>C
ENST00000644146.1:c.*13-26T>C	ENSP00000494808.1:n.*13-26T>C
ENST00000645099.1:c.-7-26T>C	ENSP00000496091.1:n.-7-26T>C
ENST00000645702.1:c.24-26T>C	ENSP00000496432.1:n.24-26T>C
ENST00000645832.1:c.*320-26T>C	ENSP00000494316.1:n.*320-26T>C
ENST00000646058.1:c.435-26T>C	ENSP00000493579.1:n.435-26T>C
ENST00000646355.1:c.*441-26T>C	ENSP00000493801.1:n.*441-26T>C
ENST00000646554.1:c.*413-26T>C	ENSP00000494542.1:n.*413-26T>C
ENST00000646590.1:c.426-26T>C	ENSP00000494892.1:n.426-26T>C
ENST00000647335.1:c.*402-26T>C	ENSP00000495180.1:n.*402-26T>C
ENST00000647342.1:c.*366-26T>C	ENSP00000494992.1:n.*366-26T>C
ENST00000256216.10:c.435-26T>C	ENSP00000256216.6:n.435-26T>C
ENST00000414835.6:c.15-26T>C	ENSP00000411960.2:n.15-26T>C
ENST00000442060.7:c.435-26T>C	ENSP00000390208.3:n.435-26T>C
ENST00000503168.5:n.424-26T>C
ENST00000504811.5:c.510-26T>C	ENSP00000420914.1:n.510-26T>C
ENST00000505181.5:n.138-26T>C
ENST00000508788.5:n.337-26T>C
ENST00000509514.5:c.-450-26T>C	ENSP00000426272.1:n.-450-26T>C
ENST00000510025.5:c.363-26T>C	ENSP00000424940.1:n.363-26T>C
ENST00000512841.5:n.483-26T>C
ENST00000513628.5:c.24-26T>C	ENSP00000425993.1:n.24-26T>C
ENST00000515235.6:n.495-26T>C
ENST00000515320.5:c.381-26T>C	ENSP00000424613.1:n.381-26T>C
NM_000414.3:c.435-26T>C	NP_000405.1:n.435-26T>C
NM_001199291.2:c.510-26T>C	NP_001186220.1:n.510-26T>C
NM_001199292.1:c.381-26T>C	NP_001186221.1:n.381-26T>C
NM_001292027.1:c.363-26T>C	NP_001278956.1:n.363-26T>C
NM_001292028.1:c.15-26T>C	NP_001278957.1:n.15-26T>C
NM_000414.4:c.435-26T>C MANE Select	NP_000405.1:n.435-26T>C
NM_001199291.3:c.510-26T>C	NP_001186220.1:n.510-26T>C
NM_001199292.2:c.381-26T>C	NP_001186221.1:n.381-26T>C
NM_001292027.2:c.363-26T>C	NP_001278956.1:n.363-26T>C
NM_001292028.2:c.15-26T>C	NP_001278957.1:n.15-26T>C
NM_001374497.1:c.426-26T>C	NP_001361426.1:n.426-26T>C
NM_001374498.1:c.435-26T>C	NP_001361427.1:n.435-26T>C
NM_001374499.1:c.108-26T>C	NP_001361428.1:n.108-26T>C
NM_001374500.1:c.-7-26T>C	NP_001361429.1:n.-7-26T>C
NM_001374501.1:c.24-26T>C	NP_001361430.1:n.24-26T>C
NM_001374502.1:c.24-26T>C	NP_001361431.1:n.24-26T>C
NM_001374503.1:c.24-26T>C	NP_001361432.1:n.24-26T>C
NR_164653.1:n.514-26T>C
NR_164654.1:n.702-26T>C