Canonical Allele Identifier: CA3381867

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 907603
• ClinVar RCV Id: RCV001157566 ; RCV001157565 ; RCV001772352
• dbSNP Id: rs771009588
• ExAC: 5:118814576 A / C
• gnomAD v2: 5-118814576-A-C
• gnomAD v4: 5-119478881-A-C
• MyVariant Identifiers: chr5:g.118814576A>C (hg19) ; chr5:g.119478881A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478881A>C , CM000667.2:g.119478881A>C	GRCh38
NC_000005.9:g.118814576A>C , CM000667.1:g.118814576A>C	GRCh37
NC_000005.8:g.118842475A>C	NCBI36
NG_008182.1:g.31429A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.482A>C	ENSP00000426272.2:p.Gln161Pro
ENST00000518349.6:c.113-17662A>C	ENSP00000507185.1:n.113-17662A>C
ENST00000682445.1:c.*363A>C	ENSP00000508061.1:n.*363A>C
ENST00000682531.1:n.583A>C
ENST00000682626.1:c.510A>C	ENSP00000507857.1:p.Pro170=
ENST00000682996.1:c.482A>C	ENSP00000507792.1:p.Gln161Pro
ENST00000683265.1:n.575A>C
ENST00000683371.1:c.*612A>C	ENSP00000508376.1:n.*612A>C
ENST00000683390.1:n.2172A>C
ENST00000683549.1:n.403A>C
ENST00000683936.1:c.*367A>C	ENSP00000507721.1:n.*367A>C
ENST00000683974.1:n.564A>C
ENST00000683996.1:c.71A>C	ENSP00000507060.1:p.Gln24Pro
ENST00000684131.1:n.321A>C
ENST00000684160.1:c.*172A>C	ENSP00000507821.1:n.*172A>C
ENST00000684214.1:c.482A>C	ENSP00000508071.1:p.Gln161Pro
ENST00000414835.7:c.557A>C	ENSP00000411960.3:p.Gln186Pro
ENST00000510025.7:c.482A>C MANE Select	ENSP00000424940.3:p.Gln161Pro
ENST00000643250.1:c.*354A>C	ENSP00000494737.1:n.*354A>C
ENST00000644146.1:c.*60A>C	ENSP00000494808.1:n.*60A>C
ENST00000645099.1:c.41A>C	ENSP00000496091.1:p.Gln14Pro
ENST00000645702.1:c.71A>C	ENSP00000496432.1:p.Gln24Pro
ENST00000645832.1:c.*367A>C	ENSP00000494316.1:n.*367A>C
ENST00000646058.1:c.482A>C	ENSP00000493579.1:p.Gln161Pro
ENST00000646355.1:c.*488A>C	ENSP00000493801.1:n.*488A>C
ENST00000646554.1:c.*460A>C	ENSP00000494542.1:n.*460A>C
ENST00000646590.1:c.473A>C	ENSP00000494892.1:p.Gln158Pro
ENST00000647335.1:c.*449A>C	ENSP00000495180.1:n.*449A>C
ENST00000647342.1:c.*413A>C	ENSP00000494992.1:n.*413A>C
ENST00000256216.10:c.482A>C	ENSP00000256216.6:p.Gln161Pro
ENST00000414835.6:c.62A>C	ENSP00000411960.2:p.Gln21Pro
ENST00000442060.7:c.482A>C	ENSP00000390208.3:p.Gln161Pro
ENST00000503168.5:n.471A>C
ENST00000504811.5:c.557A>C	ENSP00000420914.1:p.Gln186Pro
ENST00000505181.5:n.185A>C
ENST00000508788.5:n.384A>C
ENST00000509514.5:c.-403A>C	ENSP00000426272.1:n.-403A>C
ENST00000510025.5:c.410A>C	ENSP00000424940.1:p.Gln137Pro
ENST00000512644.1:n.50A>C
ENST00000512841.5:n.530A>C
ENST00000513628.5:c.71A>C	ENSP00000425993.1:p.Gln24Pro
ENST00000515235.6:n.542A>C
ENST00000515320.5:c.428A>C	ENSP00000424613.1:p.Gln143Pro
NM_000414.3:c.482A>C	NP_000405.1:p.Gln161Pro
NM_001199291.2:c.557A>C	NP_001186220.1:p.Gln186Pro
NM_001199292.1:c.428A>C	NP_001186221.1:p.Gln143Pro
NM_001292027.1:c.410A>C	NP_001278956.1:p.Gln137Pro
NM_001292028.1:c.62A>C	NP_001278957.1:p.Gln21Pro
NM_000414.4:c.482A>C MANE Select	NP_000405.1:p.Gln161Pro
NM_001199291.3:c.557A>C	NP_001186220.1:p.Gln186Pro
NM_001199292.2:c.428A>C	NP_001186221.1:p.Gln143Pro
NM_001292027.2:c.410A>C	NP_001278956.1:p.Gln137Pro
NM_001292028.2:c.62A>C	NP_001278957.1:p.Gln21Pro
NM_001374497.1:c.473A>C	NP_001361426.1:p.Gln158Pro
NM_001374498.1:c.482A>C	NP_001361427.1:p.Gln161Pro
NM_001374499.1:c.155A>C	NP_001361428.1:p.Gln52Pro
NM_001374500.1:c.41A>C	NP_001361429.1:p.Gln14Pro
NM_001374501.1:c.71A>C	NP_001361430.1:p.Gln24Pro
NM_001374502.1:c.71A>C	NP_001361431.1:p.Gln24Pro
NM_001374503.1:c.71A>C	NP_001361432.1:p.Gln24Pro
NR_164653.1:n.561A>C
NR_164654.1:n.749A>C