Canonical Allele Identifier: CA3381890

Gene: HSD17B4

Linked Data

• dbSNP Id: rs749700774
• ExAC: 5:118814698 C / G
• gnomAD v2: 5-118814698-C-G
• gnomAD v4: 5-119479003-C-G
• COSMIC: COSM253740
• MyVariant Identifiers: chr5:g.118814698C>G (hg19) ; chr5:g.119479003C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479003C>G , CM000667.2:g.119479003C>G	GRCh38
NC_000005.9:g.118814698C>G , CM000667.1:g.118814698C>G	GRCh37
NC_000005.8:g.118842597C>G	NCBI36
NG_008182.1:g.31551C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.604C>G	ENSP00000426272.2:p.Gln202Glu
ENST00000518349.6:c.113-17540C>G	ENSP00000507185.1:n.113-17540C>G
ENST00000682445.1:c.*485C>G	ENSP00000508061.1:n.*485C>G
ENST00000682531.1:n.705C>G
ENST00000682626.1:c.*110C>G	ENSP00000507857.1:n.*110C>G
ENST00000682996.1:c.604C>G	ENSP00000507792.1:p.Gln202Glu
ENST00000683265.1:n.697C>G
ENST00000683371.1:c.*734C>G	ENSP00000508376.1:n.*734C>G
ENST00000683390.1:n.2294C>G
ENST00000683549.1:n.525C>G
ENST00000683936.1:c.*489C>G	ENSP00000507721.1:n.*489C>G
ENST00000683974.1:n.686C>G
ENST00000683996.1:c.193C>G	ENSP00000507060.1:p.Gln65Glu
ENST00000684131.1:n.443C>G
ENST00000684160.1:c.*294C>G	ENSP00000507821.1:n.*294C>G
ENST00000684214.1:c.604C>G	ENSP00000508071.1:p.Gln202Glu
ENST00000414835.7:c.679C>G	ENSP00000411960.3:p.Gln227Glu
ENST00000510025.7:c.604C>G MANE Select	ENSP00000424940.3:p.Gln202Glu
ENST00000643250.1:c.*476C>G	ENSP00000494737.1:n.*476C>G
ENST00000644146.1:c.*182C>G	ENSP00000494808.1:n.*182C>G
ENST00000645099.1:c.163C>G	ENSP00000496091.1:p.Gln55Glu
ENST00000645702.1:c.193C>G	ENSP00000496432.1:p.Gln65Glu
ENST00000645832.1:c.*489C>G	ENSP00000494316.1:n.*489C>G
ENST00000646058.1:c.604C>G	ENSP00000493579.1:p.Gln202Glu
ENST00000646355.1:c.*610C>G	ENSP00000493801.1:n.*610C>G
ENST00000646554.1:c.*582C>G	ENSP00000494542.1:n.*582C>G
ENST00000647335.1:c.*571C>G	ENSP00000495180.1:n.*571C>G
ENST00000647342.1:c.*535C>G	ENSP00000494992.1:n.*535C>G
ENST00000256216.10:c.604C>G	ENSP00000256216.6:p.Gln202Glu
ENST00000414835.6:c.184C>G	ENSP00000411960.2:p.Gln62Glu
ENST00000442060.7:c.604C>G	ENSP00000390208.3:p.Gln202Glu
ENST00000504811.5:c.679C>G	ENSP00000420914.1:p.Gln227Glu
ENST00000505181.5:n.307C>G
ENST00000509514.5:c.-281C>G	ENSP00000426272.1:n.-281C>G
ENST00000510025.5:c.532C>G	ENSP00000424940.1:p.Gln178Glu
ENST00000512644.1:n.172C>G
ENST00000513628.5:c.193C>G	ENSP00000425993.1:p.Gln65Glu
ENST00000515235.6:n.664C>G
ENST00000515320.5:c.550C>G	ENSP00000424613.1:p.Gln184Glu
NM_000414.3:c.604C>G	NP_000405.1:p.Gln202Glu
NM_001199291.2:c.679C>G	NP_001186220.1:p.Gln227Glu
NM_001199292.1:c.550C>G	NP_001186221.1:p.Gln184Glu
NM_001292027.1:c.532C>G	NP_001278956.1:p.Gln178Glu
NM_001292028.1:c.184C>G	NP_001278957.1:p.Gln62Glu
NM_000414.4:c.604C>G MANE Select	NP_000405.1:p.Gln202Glu
NM_001199291.3:c.679C>G	NP_001186220.1:p.Gln227Glu
NM_001199292.2:c.550C>G	NP_001186221.1:p.Gln184Glu
NM_001292027.2:c.532C>G	NP_001278956.1:p.Gln178Glu
NM_001292028.2:c.184C>G	NP_001278957.1:p.Gln62Glu
NM_001374497.1:c.595C>G	NP_001361426.1:p.Gln199Glu
NM_001374498.1:c.604C>G	NP_001361427.1:p.Gln202Glu
NM_001374499.1:c.277C>G	NP_001361428.1:p.Gln93Glu
NM_001374500.1:c.163C>G	NP_001361429.1:p.Gln55Glu
NM_001374501.1:c.193C>G	NP_001361430.1:p.Gln65Glu
NM_001374502.1:c.193C>G	NP_001361431.1:p.Gln65Glu
NM_001374503.1:c.193C>G	NP_001361432.1:p.Gln65Glu
NR_164653.1:n.683C>G
NR_164654.1:n.871C>G