Canonical Allele Identifier: CA360866074

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1273711073
• gnomAD v2: 5-118814538-G-A
• gnomAD v4: 5-119478843-G-A
• MyVariant Identifiers: chr5:g.118814538G>A (hg19) ; chr5:g.119478843G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478843G>A , CM000667.2:g.119478843G>A	GRCh38
NC_000005.9:g.118814538G>A , CM000667.1:g.118814538G>A	GRCh37
NC_000005.8:g.118842437G>A	NCBI36
NG_008182.1:g.31391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.444G>A	ENSP00000426272.2:p.Met148Ile
ENST00000518349.6:c.113-17700G>A	ENSP00000507185.1:n.113-17700G>A
ENST00000682445.1:c.*325G>A	ENSP00000508061.1:n.*325G>A
ENST00000682531.1:n.545G>A
ENST00000682626.1:c.472G>A	ENSP00000507857.1:p.Asp158Asn
ENST00000682996.1:c.444G>A	ENSP00000507792.1:p.Met148Ile
ENST00000683265.1:n.537G>A
ENST00000683371.1:c.*574G>A	ENSP00000508376.1:n.*574G>A
ENST00000683390.1:n.2134G>A
ENST00000683549.1:n.365G>A
ENST00000683936.1:c.*329G>A	ENSP00000507721.1:n.*329G>A
ENST00000683974.1:n.526G>A
ENST00000683996.1:c.33G>A	ENSP00000507060.1:p.Met11Ile
ENST00000684131.1:n.283G>A
ENST00000684160.1:c.*134G>A	ENSP00000507821.1:n.*134G>A
ENST00000684214.1:c.444G>A	ENSP00000508071.1:p.Met148Ile
ENST00000414835.7:c.519G>A	ENSP00000411960.3:p.Met173Ile
ENST00000510025.7:c.444G>A MANE Select	ENSP00000424940.3:p.Met148Ile
ENST00000643250.1:c.*316G>A	ENSP00000494737.1:n.*316G>A
ENST00000644146.1:c.*22G>A	ENSP00000494808.1:n.*22G>A
ENST00000645099.1:c.3G>A	ENSP00000496091.1:p.Met1Ile
ENST00000645702.1:c.33G>A	ENSP00000496432.1:p.Met11Ile
ENST00000645832.1:c.*329G>A	ENSP00000494316.1:n.*329G>A
ENST00000646058.1:c.444G>A	ENSP00000493579.1:p.Met148Ile
ENST00000646355.1:c.*450G>A	ENSP00000493801.1:n.*450G>A
ENST00000646554.1:c.*422G>A	ENSP00000494542.1:n.*422G>A
ENST00000646590.1:c.435G>A	ENSP00000494892.1:p.Met145Ile
ENST00000647335.1:c.*411G>A	ENSP00000495180.1:n.*411G>A
ENST00000647342.1:c.*375G>A	ENSP00000494992.1:n.*375G>A
ENST00000256216.10:c.444G>A	ENSP00000256216.6:p.Met148Ile
ENST00000414835.6:c.24G>A	ENSP00000411960.2:p.Met8Ile
ENST00000442060.7:c.444G>A	ENSP00000390208.3:p.Met148Ile
ENST00000503168.5:n.433G>A
ENST00000504811.5:c.519G>A	ENSP00000420914.1:p.Met173Ile
ENST00000505181.5:n.147G>A
ENST00000508788.5:n.346G>A
ENST00000509514.5:c.-441G>A	ENSP00000426272.1:n.-441G>A
ENST00000510025.5:c.372G>A	ENSP00000424940.1:p.Met124Ile
ENST00000512644.1:n.12G>A
ENST00000512841.5:n.492G>A
ENST00000513628.5:c.33G>A	ENSP00000425993.1:p.Met11Ile
ENST00000515235.6:n.504G>A
ENST00000515320.5:c.390G>A	ENSP00000424613.1:p.Met130Ile
NM_000414.3:c.444G>A	NP_000405.1:p.Met148Ile
NM_001199291.2:c.519G>A	NP_001186220.1:p.Met173Ile
NM_001199292.1:c.390G>A	NP_001186221.1:p.Met130Ile
NM_001292027.1:c.372G>A	NP_001278956.1:p.Met124Ile
NM_001292028.1:c.24G>A	NP_001278957.1:p.Met8Ile
NM_000414.4:c.444G>A MANE Select	NP_000405.1:p.Met148Ile
NM_001199291.3:c.519G>A	NP_001186220.1:p.Met173Ile
NM_001199292.2:c.390G>A	NP_001186221.1:p.Met130Ile
NM_001292027.2:c.372G>A	NP_001278956.1:p.Met124Ile
NM_001292028.2:c.24G>A	NP_001278957.1:p.Met8Ile
NM_001374497.1:c.435G>A	NP_001361426.1:p.Met145Ile
NM_001374498.1:c.444G>A	NP_001361427.1:p.Met148Ile
NM_001374499.1:c.117G>A	NP_001361428.1:p.Met39Ile
NM_001374500.1:c.3G>A	NP_001361429.1:p.Met1Ile
NM_001374501.1:c.33G>A	NP_001361430.1:p.Met11Ile
NM_001374502.1:c.33G>A	NP_001361431.1:p.Met11Ile
NM_001374503.1:c.33G>A	NP_001361432.1:p.Met11Ile
NR_164653.1:n.523G>A
NR_164654.1:n.711G>A