Canonical Allele Identifier: CA3381664

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 504931
• ClinVar RCV Id: RCV000614923 ; RCV000734981 ; RCV001273974 ; RCV002529309
• dbSNP Id: rs747214551
• ExAC: 5:118792060 G / A
• gnomAD v2: 5-118792060-G-A
• gnomAD v3: 5-119456365-G-A
• gnomAD v4: 5-119456365-G-A
• MyVariant Identifiers: chr5:g.118792060G>A (hg19) ; chr5:g.119456365G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119456365G>A , CM000667.2:g.119456365G>A	GRCh38
NC_000005.9:g.118792060G>A , CM000667.1:g.118792060G>A	GRCh37
NC_000005.8:g.118819959G>A	NCBI36
NG_008182.1:g.8913G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.109G>A	ENSP00000426272.2:p.Val37Ile
ENST00000512841.6:n.150G>A
ENST00000518349.6:c.109G>A	ENSP00000507185.1:p.Val37Ile
ENST00000682445.1:c.109G>A	ENSP00000508061.1:p.Val37Ile
ENST00000682531.1:n.145G>A
ENST00000682626.1:c.119G>A	ENSP00000507857.1:p.Cys40Tyr
ENST00000682996.1:c.109G>A	ENSP00000507792.1:p.Val37Ile
ENST00000683265.1:n.137G>A
ENST00000683371.1:c.109G>A	ENSP00000508376.1:p.Val37Ile
ENST00000683390.1:n.157G>A
ENST00000683936.1:c.109G>A	ENSP00000507721.1:p.Val37Ile
ENST00000683974.1:n.191G>A
ENST00000684160.1:c.119G>A	ENSP00000507821.1:p.Cys40Tyr
ENST00000684214.1:c.109G>A	ENSP00000508071.1:p.Val37Ile
ENST00000414835.7:c.119G>A	ENSP00000411960.3:p.Cys40Tyr
ENST00000510025.7:c.109G>A MANE Select	ENSP00000424940.3:p.Val37Ile
ENST00000643250.1:c.119G>A	ENSP00000494737.1:p.Cys40Tyr
ENST00000644146.1:c.109G>A	ENSP00000494808.1:p.Val37Ile
ENST00000645832.1:c.109G>A	ENSP00000494316.1:p.Val37Ile
ENST00000646058.1:c.109G>A	ENSP00000493579.1:p.Val37Ile
ENST00000646355.1:c.119G>A	ENSP00000493801.1:p.Cys40Tyr
ENST00000646554.1:c.119G>A	ENSP00000494542.1:p.Cys40Tyr
ENST00000646590.1:c.109G>A	ENSP00000494892.1:p.Val37Ile
ENST00000647335.1:c.119G>A	ENSP00000495180.1:p.Cys40Tyr
ENST00000647342.1:c.119G>A	ENSP00000494992.1:p.Cys40Tyr
ENST00000256216.10:c.109G>A	ENSP00000256216.6:p.Val37Ile
ENST00000414835.6:c.-303G>A	ENSP00000411960.2:n.-303G>A
ENST00000442060.7:c.109G>A	ENSP00000390208.3:p.Val37Ile
ENST00000503168.5:n.98G>A
ENST00000504811.5:c.119G>A	ENSP00000420914.1:p.Cys40Tyr
ENST00000507695.1:n.53G>A
ENST00000508750.1:n.107G>A
ENST00000510025.5:c.-29G>A	ENSP00000424940.1:n.-29G>A
ENST00000511186.5:n.212G>A
ENST00000512841.5:n.157G>A
ENST00000515235.6:n.169G>A
ENST00000515320.5:c.58+3732G>A	ENSP00000424613.1:n.58+3732G>A
ENST00000519184.5:n.120G>A
NM_000414.3:c.109G>A	NP_000405.1:p.Val37Ile
NM_001199291.2:c.119G>A	NP_001186220.1:p.Cys40Tyr
NM_001199292.1:c.58+3732G>A	NP_001186221.1:n.58+3732G>A
NM_001292027.1:c.-29G>A	NP_001278956.1:n.-29G>A
NM_001292028.1:c.-303G>A	NP_001278957.1:n.-303G>A
NM_000414.4:c.109G>A MANE Select	NP_000405.1:p.Val37Ile
NM_001199291.3:c.119G>A	NP_001186220.1:p.Cys40Tyr
NM_001199292.2:c.58+3732G>A	NP_001186221.1:n.58+3732G>A
NM_001292027.2:c.-29G>A	NP_001278956.1:n.-29G>A
NM_001292028.2:c.-303G>A	NP_001278957.1:n.-303G>A
NM_001374497.1:c.109G>A	NP_001361426.1:p.Val37Ile
NM_001374498.1:c.109G>A	NP_001361427.1:p.Val37Ile
NM_001374499.1:c.-237G>A	NP_001361428.1:n.-237G>A
NM_001374500.1:c.-430G>A	NP_001361429.1:n.-430G>A
NM_001374501.1:c.-303G>A	NP_001361430.1:n.-303G>A
NM_001374502.1:c.-308G>A	NP_001361431.1:n.-308G>A
NM_001374503.1:c.-373G>A	NP_001361432.1:n.-373G>A
NR_164653.1:n.188G>A
NR_164654.1:n.376G>A