Canonical Allele Identifier: CA3381727

Gene: HSD17B4

Linked Data

• dbSNP Id: rs772663373
• ExAC: 5:118810070 T / G
• gnomAD v2: 5-118810070-T-G
• gnomAD v4: 5-119474375-T-G
• MyVariant Identifiers: chr5:g.118810070T>G (hg19) ; chr5:g.119474375T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119474375T>G , CM000667.2:g.119474375T>G	GRCh38
NC_000005.9:g.118810070T>G , CM000667.1:g.118810070T>G	GRCh37
NC_000005.8:g.118837969T>G	NCBI36
NG_008182.1:g.26923T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.221-26T>G	ENSP00000426272.2:n.221-26T>G
ENST00000512841.6:n.262-26T>G
ENST00000518349.6:c.112+18007T>G	ENSP00000507185.1:n.112+18007T>G
ENST00000682445.1:c.*102-26T>G	ENSP00000508061.1:n.*102-26T>G
ENST00000682531.1:n.322-26T>G
ENST00000682626.1:c.296-26T>G	ENSP00000507857.1:n.296-26T>G
ENST00000682996.1:c.221-26T>G	ENSP00000507792.1:n.221-26T>G
ENST00000683265.1:n.314-26T>G
ENST00000683371.1:c.*351-26T>G	ENSP00000508376.1:n.*351-26T>G
ENST00000683390.1:n.269-26T>G
ENST00000683936.1:c.*106-26T>G	ENSP00000507721.1:n.*106-26T>G
ENST00000683974.1:n.303-26T>G
ENST00000684160.1:c.296-26T>G	ENSP00000507821.1:n.296-26T>G
ENST00000684214.1:c.221-26T>G	ENSP00000508071.1:n.221-26T>G
ENST00000414835.7:c.296-26T>G	ENSP00000411960.3:n.296-26T>G
ENST00000510025.7:c.221-26T>G MANE Select	ENSP00000424940.3:n.221-26T>G
ENST00000643250.1:c.*102-26T>G	ENSP00000494737.1:n.*102-26T>G
ENST00000644146.1:c.221-26T>G	ENSP00000494808.1:n.221-26T>G
ENST00000645832.1:c.*106-26T>G	ENSP00000494316.1:n.*106-26T>G
ENST00000646058.1:c.221-26T>G	ENSP00000493579.1:n.221-26T>G
ENST00000646355.1:c.*227-26T>G	ENSP00000493801.1:n.*227-26T>G
ENST00000646554.1:c.*102-26T>G	ENSP00000494542.1:n.*102-26T>G
ENST00000646590.1:c.221-26T>G	ENSP00000494892.1:n.221-26T>G
ENST00000647335.1:c.*188-26T>G	ENSP00000495180.1:n.*188-26T>G
ENST00000647342.1:c.*102-26T>G	ENSP00000494992.1:n.*102-26T>G
ENST00000256216.10:c.221-26T>G	ENSP00000256216.6:n.221-26T>G
ENST00000414835.6:c.-191-26T>G	ENSP00000411960.2:n.-191-26T>G
ENST00000442060.7:c.221-26T>G	ENSP00000390208.3:n.221-26T>G
ENST00000503168.5:n.210-26T>G
ENST00000504811.5:c.296-26T>G	ENSP00000420914.1:n.296-26T>G
ENST00000507695.1:n.165-26T>G
ENST00000510025.5:c.149-26T>G	ENSP00000424940.1:n.149-26T>G
ENST00000511186.5:n.324-26T>G
ENST00000512841.5:n.269-26T>G
ENST00000515235.6:n.281-26T>G
ENST00000515320.5:c.167-26T>G	ENSP00000424613.1:n.167-26T>G
NM_000414.3:c.221-26T>G	NP_000405.1:n.221-26T>G
NM_001199291.2:c.296-26T>G	NP_001186220.1:n.296-26T>G
NM_001199292.1:c.167-26T>G	NP_001186221.1:n.167-26T>G
NM_001292027.1:c.149-26T>G	NP_001278956.1:n.149-26T>G
NM_001292028.1:c.-191-26T>G	NP_001278957.1:n.-191-26T>G
NM_000414.4:c.221-26T>G MANE Select	NP_000405.1:n.221-26T>G
NM_001199291.3:c.296-26T>G	NP_001186220.1:n.296-26T>G
NM_001199292.2:c.167-26T>G	NP_001186221.1:n.167-26T>G
NM_001292027.2:c.149-26T>G	NP_001278956.1:n.149-26T>G
NM_001292028.2:c.-191-26T>G	NP_001278957.1:n.-191-26T>G
NM_001374497.1:c.221-26T>G	NP_001361426.1:n.221-26T>G
NM_001374498.1:c.221-26T>G	NP_001361427.1:n.221-26T>G
NM_001374499.1:c.-60-26T>G	NP_001361428.1:n.-60-26T>G
NM_001374500.1:c.-318-26T>G	NP_001361429.1:n.-318-26T>G
NM_001374501.1:c.-191-26T>G	NP_001361430.1:n.-191-26T>G
NM_001374502.1:c.-191-26T>G	NP_001361431.1:n.-191-26T>G
NM_001374503.1:c.-191-26T>G	NP_001361432.1:n.-191-26T>G
NR_164653.1:n.300-26T>G
NR_164654.1:n.488-26T>G