Canonical Allele Identifier: CA446040707

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118811408G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119475713G>C , CM000667.2:g.119475713G>C	GRCh38
NC_000005.9:g.118811408G>C , CM000667.1:g.118811408G>C	GRCh37
NC_000005.8:g.118839307G>C	NCBI36
NG_008182.1:g.28261G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.288G>C	ENSP00000426272.2:p.Val96=
ENST00000518349.6:c.112+19345G>C	ENSP00000507185.1:n.112+19345G>C
ENST00000682445.1:c.*169G>C	ENSP00000508061.1:n.*169G>C
ENST00000682531.1:n.389G>C
ENST00000682626.1:c.363G>C	ENSP00000507857.1:p.Val121=
ENST00000682996.1:c.288G>C	ENSP00000507792.1:p.Val96=
ENST00000683265.1:n.381G>C
ENST00000683371.1:c.*418G>C	ENSP00000508376.1:n.*418G>C
ENST00000683390.1:n.336G>C
ENST00000683936.1:c.*173G>C	ENSP00000507721.1:n.*173G>C
ENST00000683974.1:n.370G>C
ENST00000684160.1:c.363G>C	ENSP00000507821.1:p.Val121=
ENST00000684214.1:c.288G>C	ENSP00000508071.1:p.Val96=
ENST00000414835.7:c.363G>C	ENSP00000411960.3:p.Val121=
ENST00000510025.7:c.288G>C MANE Select	ENSP00000424940.3:p.Val96=
ENST00000643250.1:c.*169G>C	ENSP00000494737.1:n.*169G>C
ENST00000644146.1:c.288G>C	ENSP00000494808.1:p.Val96=
ENST00000645832.1:c.*173G>C	ENSP00000494316.1:n.*173G>C
ENST00000646058.1:c.288G>C	ENSP00000493579.1:p.Val96=
ENST00000646355.1:c.*294G>C	ENSP00000493801.1:n.*294G>C
ENST00000646554.1:c.*169G>C	ENSP00000494542.1:n.*169G>C
ENST00000646590.1:c.288G>C	ENSP00000494892.1:p.Val96=
ENST00000647335.1:c.*255G>C	ENSP00000495180.1:n.*255G>C
ENST00000647342.1:c.*169G>C	ENSP00000494992.1:n.*169G>C
ENST00000256216.10:c.288G>C	ENSP00000256216.6:p.Val96=
ENST00000414835.6:c.-124G>C	ENSP00000411960.2:n.-124G>C
ENST00000442060.7:c.288G>C	ENSP00000390208.3:p.Val96=
ENST00000503168.5:n.277G>C
ENST00000504811.5:c.363G>C	ENSP00000420914.1:p.Val121=
ENST00000507695.1:n.260G>C
ENST00000510025.5:c.216G>C	ENSP00000424940.1:p.Val72=
ENST00000511186.5:n.419G>C
ENST00000512841.5:n.336G>C
ENST00000515235.6:n.348G>C
ENST00000515320.5:c.234G>C	ENSP00000424613.1:p.Val78=
NM_000414.3:c.288G>C	NP_000405.1:p.Val96=
NM_001199291.2:c.363G>C	NP_001186220.1:p.Val121=
NM_001199292.1:c.234G>C	NP_001186221.1:p.Val78=
NM_001292027.1:c.216G>C	NP_001278956.1:p.Val72=
NM_001292028.1:c.-124G>C	NP_001278957.1:n.-124G>C
NM_000414.4:c.288G>C MANE Select	NP_000405.1:p.Val96=
NM_001199291.3:c.363G>C	NP_001186220.1:p.Val121=
NM_001199292.2:c.234G>C	NP_001186221.1:p.Val78=
NM_001292027.2:c.216G>C	NP_001278956.1:p.Val72=
NM_001292028.2:c.-124G>C	NP_001278957.1:n.-124G>C
NM_001374497.1:c.288G>C	NP_001361426.1:p.Val96=
NM_001374498.1:c.288G>C	NP_001361427.1:p.Val96=
NM_001374499.1:c.8G>C	NP_001361428.1:p.Trp3Ser
NM_001374500.1:c.-251G>C	NP_001361429.1:n.-251G>C
NM_001374501.1:c.-124G>C	NP_001361430.1:n.-124G>C
NM_001374502.1:c.-124G>C	NP_001361431.1:n.-124G>C
NM_001374503.1:c.-124G>C	NP_001361432.1:n.-124G>C
NR_164653.1:n.367G>C
NR_164654.1:n.555G>C