Canonical Allele Identifier: CA360866874

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119489195-T-C
• MyVariant Identifiers: chr5:g.118824890T>C (hg19) ; chr5:g.119489195T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119489195T>C , CM000667.2:g.119489195T>C	GRCh38
NC_000005.9:g.118824890T>C , CM000667.1:g.118824890T>C	GRCh37
NC_000005.8:g.118852789T>C	NCBI36
NG_008182.1:g.41743T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.626T>C	ENSP00000426272.2:p.Leu209Pro
ENST00000518349.6:c.113-7348T>C	ENSP00000507185.1:n.113-7348T>C
ENST00000682445.1:c.*507T>C	ENSP00000508061.1:n.*507T>C
ENST00000682531.1:n.727T>C
ENST00000682626.1:c.*132T>C	ENSP00000507857.1:n.*132T>C
ENST00000682996.1:c.626T>C	ENSP00000507792.1:p.Leu209Pro
ENST00000683265.1:n.719T>C
ENST00000683371.1:c.*756T>C	ENSP00000508376.1:n.*756T>C
ENST00000683390.1:n.2316T>C
ENST00000683549.1:n.547T>C
ENST00000683936.1:c.*511T>C	ENSP00000507721.1:n.*511T>C
ENST00000683974.1:n.708T>C
ENST00000683996.1:c.215T>C	ENSP00000507060.1:p.Leu72Pro
ENST00000684131.1:n.465T>C
ENST00000684160.1:c.*316T>C	ENSP00000507821.1:n.*316T>C
ENST00000684214.1:c.626T>C	ENSP00000508071.1:p.Leu209Pro
ENST00000414835.7:c.701T>C	ENSP00000411960.3:p.Leu234Pro
ENST00000510025.7:c.626T>C MANE Select	ENSP00000424940.3:p.Leu209Pro
ENST00000643250.1:c.*498T>C	ENSP00000494737.1:n.*498T>C
ENST00000644146.1:c.*204T>C	ENSP00000494808.1:n.*204T>C
ENST00000645099.1:c.185T>C	ENSP00000496091.1:p.Leu62Pro
ENST00000645702.1:c.*29T>C	ENSP00000496432.1:n.*29T>C
ENST00000645832.1:c.*511T>C	ENSP00000494316.1:n.*511T>C
ENST00000646058.1:c.626T>C	ENSP00000493579.1:p.Leu209Pro
ENST00000646355.1:c.*632T>C	ENSP00000493801.1:n.*632T>C
ENST00000646554.1:c.*604T>C	ENSP00000494542.1:n.*604T>C
ENST00000647335.1:c.*593T>C	ENSP00000495180.1:n.*593T>C
ENST00000647342.1:c.*557T>C	ENSP00000494992.1:n.*557T>C
ENST00000256216.10:c.626T>C	ENSP00000256216.6:p.Leu209Pro
ENST00000414835.6:c.206T>C	ENSP00000411960.2:p.Leu69Pro
ENST00000442060.7:c.626T>C	ENSP00000390208.3:p.Leu209Pro
ENST00000504811.5:c.701T>C	ENSP00000420914.1:p.Leu234Pro
ENST00000505181.5:n.329T>C
ENST00000509514.5:c.-259T>C	ENSP00000426272.1:n.-259T>C
ENST00000510025.5:c.554T>C	ENSP00000424940.1:p.Leu185Pro
ENST00000512644.1:n.194T>C
ENST00000513628.5:c.215T>C	ENSP00000425993.1:p.Leu72Pro
ENST00000515235.6:n.686T>C
ENST00000515320.5:c.572T>C	ENSP00000424613.1:p.Leu191Pro
NM_000414.3:c.626T>C	NP_000405.1:p.Leu209Pro
NM_001199291.2:c.701T>C	NP_001186220.1:p.Leu234Pro
NM_001199292.1:c.572T>C	NP_001186221.1:p.Leu191Pro
NM_001292027.1:c.554T>C	NP_001278956.1:p.Leu185Pro
NM_001292028.1:c.206T>C	NP_001278957.1:p.Leu69Pro
NM_000414.4:c.626T>C MANE Select	NP_000405.1:p.Leu209Pro
NM_001199291.3:c.701T>C	NP_001186220.1:p.Leu234Pro
NM_001199292.2:c.572T>C	NP_001186221.1:p.Leu191Pro
NM_001292027.2:c.554T>C	NP_001278956.1:p.Leu185Pro
NM_001292028.2:c.206T>C	NP_001278957.1:p.Leu69Pro
NM_001374497.1:c.617T>C	NP_001361426.1:p.Leu206Pro
NM_001374498.1:c.626T>C	NP_001361427.1:p.Leu209Pro
NM_001374499.1:c.299T>C	NP_001361428.1:p.Leu100Pro
NM_001374500.1:c.185T>C	NP_001361429.1:p.Leu62Pro
NM_001374501.1:c.215T>C	NP_001361430.1:p.Leu72Pro
NM_001374502.1:c.215T>C	NP_001361431.1:p.Leu72Pro
NM_001374503.1:c.215T>C	NP_001361432.1:p.Leu72Pro
NR_164653.1:n.705T>C
NR_164654.1:n.893T>C