Canonical Allele Identifier: CA3381917

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 2930390
• ClinVar RCV Id: RCV003789700
• dbSNP Id: rs775961157
• ExAC: 5:118824875 T / G
• gnomAD v2: 5-118824875-T-G
• gnomAD v3: 5-119489180-T-G
• gnomAD v4: 5-119489180-T-G
• MyVariant Identifiers: chr5:g.118824875T>G (hg19) ; chr5:g.119489180T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119489180T>G , CM000667.2:g.119489180T>G	GRCh38
NC_000005.9:g.118824875T>G , CM000667.1:g.118824875T>G	GRCh37
NC_000005.8:g.118852774T>G	NCBI36
NG_008182.1:g.41728T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.623-12T>G	ENSP00000426272.2:n.623-12T>G
ENST00000518349.6:c.113-7363T>G	ENSP00000507185.1:n.113-7363T>G
ENST00000682445.1:c.*504-12T>G	ENSP00000508061.1:n.*504-12T>G
ENST00000682531.1:n.724-12T>G
ENST00000682626.1:c.*129-12T>G	ENSP00000507857.1:n.*129-12T>G
ENST00000682996.1:c.623-12T>G	ENSP00000507792.1:n.623-12T>G
ENST00000683265.1:n.716-12T>G
ENST00000683371.1:c.*753-12T>G	ENSP00000508376.1:n.*753-12T>G
ENST00000683390.1:n.2313-12T>G
ENST00000683549.1:n.544-12T>G
ENST00000683936.1:c.*508-12T>G	ENSP00000507721.1:n.*508-12T>G
ENST00000683974.1:n.705-12T>G
ENST00000683996.1:c.212-12T>G	ENSP00000507060.1:n.212-12T>G
ENST00000684131.1:n.462-12T>G
ENST00000684160.1:c.*313-12T>G	ENSP00000507821.1:n.*313-12T>G
ENST00000684214.1:c.623-12T>G	ENSP00000508071.1:n.623-12T>G
ENST00000414835.7:c.698-12T>G	ENSP00000411960.3:n.698-12T>G
ENST00000510025.7:c.623-12T>G MANE Select	ENSP00000424940.3:n.623-12T>G
ENST00000643250.1:c.*495-12T>G	ENSP00000494737.1:n.*495-12T>G
ENST00000644146.1:c.*201-12T>G	ENSP00000494808.1:n.*201-12T>G
ENST00000645099.1:c.182-12T>G	ENSP00000496091.1:n.182-12T>G
ENST00000645702.1:c.*26-12T>G	ENSP00000496432.1:n.*26-12T>G
ENST00000645832.1:c.*508-12T>G	ENSP00000494316.1:n.*508-12T>G
ENST00000646058.1:c.623-12T>G	ENSP00000493579.1:n.623-12T>G
ENST00000646355.1:c.*629-12T>G	ENSP00000493801.1:n.*629-12T>G
ENST00000646554.1:c.*601-12T>G	ENSP00000494542.1:n.*601-12T>G
ENST00000647335.1:c.*590-12T>G	ENSP00000495180.1:n.*590-12T>G
ENST00000647342.1:c.*554-12T>G	ENSP00000494992.1:n.*554-12T>G
ENST00000256216.10:c.623-12T>G	ENSP00000256216.6:n.623-12T>G
ENST00000414835.6:c.203-12T>G	ENSP00000411960.2:n.203-12T>G
ENST00000442060.7:c.623-12T>G	ENSP00000390208.3:n.623-12T>G
ENST00000504811.5:c.698-12T>G	ENSP00000420914.1:n.698-12T>G
ENST00000505181.5:n.326-12T>G
ENST00000509514.5:c.-262-12T>G	ENSP00000426272.1:n.-262-12T>G
ENST00000510025.5:c.551-12T>G	ENSP00000424940.1:n.551-12T>G
ENST00000512644.1:n.191-12T>G
ENST00000513628.5:c.212-12T>G	ENSP00000425993.1:n.212-12T>G
ENST00000515235.6:n.683-12T>G
ENST00000515320.5:c.569-12T>G	ENSP00000424613.1:n.569-12T>G
NM_000414.3:c.623-12T>G	NP_000405.1:n.623-12T>G
NM_001199291.2:c.698-12T>G	NP_001186220.1:n.698-12T>G
NM_001199292.1:c.569-12T>G	NP_001186221.1:n.569-12T>G
NM_001292027.1:c.551-12T>G	NP_001278956.1:n.551-12T>G
NM_001292028.1:c.203-12T>G	NP_001278957.1:n.203-12T>G
NM_000414.4:c.623-12T>G MANE Select	NP_000405.1:n.623-12T>G
NM_001199291.3:c.698-12T>G	NP_001186220.1:n.698-12T>G
NM_001199292.2:c.569-12T>G	NP_001186221.1:n.569-12T>G
NM_001292027.2:c.551-12T>G	NP_001278956.1:n.551-12T>G
NM_001292028.2:c.203-12T>G	NP_001278957.1:n.203-12T>G
NM_001374497.1:c.614-12T>G	NP_001361426.1:n.614-12T>G
NM_001374498.1:c.623-12T>G	NP_001361427.1:n.623-12T>G
NM_001374499.1:c.296-12T>G	NP_001361428.1:n.296-12T>G
NM_001374500.1:c.182-12T>G	NP_001361429.1:n.182-12T>G
NM_001374501.1:c.212-12T>G	NP_001361430.1:n.212-12T>G
NM_001374502.1:c.212-12T>G	NP_001361431.1:n.212-12T>G
NM_001374503.1:c.212-12T>G	NP_001361432.1:n.212-12T>G
NR_164653.1:n.702-12T>G
NR_164654.1:n.890-12T>G