Canonical Allele Identifier: CA446044234

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1749874200
• gnomAD v4: 5-119489193-T-C
• MyVariant Identifiers: chr5:g.118824888T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119489193T>C , CM000667.2:g.119489193T>C	GRCh38
NC_000005.9:g.118824888T>C , CM000667.1:g.118824888T>C	GRCh37
NC_000005.8:g.118852787T>C	NCBI36
NG_008182.1:g.41741T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.624T>C	ENSP00000426272.2:p.Asp208=
ENST00000518349.6:c.113-7350T>C	ENSP00000507185.1:n.113-7350T>C
ENST00000682445.1:c.*505T>C	ENSP00000508061.1:n.*505T>C
ENST00000682531.1:n.725T>C
ENST00000682626.1:c.*130T>C	ENSP00000507857.1:n.*130T>C
ENST00000682996.1:c.624T>C	ENSP00000507792.1:p.Asp208=
ENST00000683265.1:n.717T>C
ENST00000683371.1:c.*754T>C	ENSP00000508376.1:n.*754T>C
ENST00000683390.1:n.2314T>C
ENST00000683549.1:n.545T>C
ENST00000683936.1:c.*509T>C	ENSP00000507721.1:n.*509T>C
ENST00000683974.1:n.706T>C
ENST00000683996.1:c.213T>C	ENSP00000507060.1:p.Asp71=
ENST00000684131.1:n.463T>C
ENST00000684160.1:c.*314T>C	ENSP00000507821.1:n.*314T>C
ENST00000684214.1:c.624T>C	ENSP00000508071.1:p.Asp208=
ENST00000414835.7:c.699T>C	ENSP00000411960.3:p.Asp233=
ENST00000510025.7:c.624T>C MANE Select	ENSP00000424940.3:p.Asp208=
ENST00000643250.1:c.*496T>C	ENSP00000494737.1:n.*496T>C
ENST00000644146.1:c.*202T>C	ENSP00000494808.1:n.*202T>C
ENST00000645099.1:c.183T>C	ENSP00000496091.1:p.Asp61=
ENST00000645702.1:c.*27T>C	ENSP00000496432.1:n.*27T>C
ENST00000645832.1:c.*509T>C	ENSP00000494316.1:n.*509T>C
ENST00000646058.1:c.624T>C	ENSP00000493579.1:p.Asp208=
ENST00000646355.1:c.*630T>C	ENSP00000493801.1:n.*630T>C
ENST00000646554.1:c.*602T>C	ENSP00000494542.1:n.*602T>C
ENST00000647335.1:c.*591T>C	ENSP00000495180.1:n.*591T>C
ENST00000647342.1:c.*555T>C	ENSP00000494992.1:n.*555T>C
ENST00000256216.10:c.624T>C	ENSP00000256216.6:p.Asp208=
ENST00000414835.6:c.204T>C	ENSP00000411960.2:p.Asp68=
ENST00000442060.7:c.624T>C	ENSP00000390208.3:p.Asp208=
ENST00000504811.5:c.699T>C	ENSP00000420914.1:p.Asp233=
ENST00000505181.5:n.327T>C
ENST00000509514.5:c.-261T>C	ENSP00000426272.1:n.-261T>C
ENST00000510025.5:c.552T>C	ENSP00000424940.1:p.Asp184=
ENST00000512644.1:n.192T>C
ENST00000513628.5:c.213T>C	ENSP00000425993.1:p.Asp71=
ENST00000515235.6:n.684T>C
ENST00000515320.5:c.570T>C	ENSP00000424613.1:p.Asp190=
NM_000414.3:c.624T>C	NP_000405.1:p.Asp208=
NM_001199291.2:c.699T>C	NP_001186220.1:p.Asp233=
NM_001199292.1:c.570T>C	NP_001186221.1:p.Asp190=
NM_001292027.1:c.552T>C	NP_001278956.1:p.Asp184=
NM_001292028.1:c.204T>C	NP_001278957.1:p.Asp68=
NM_000414.4:c.624T>C MANE Select	NP_000405.1:p.Asp208=
NM_001199291.3:c.699T>C	NP_001186220.1:p.Asp233=
NM_001199292.2:c.570T>C	NP_001186221.1:p.Asp190=
NM_001292027.2:c.552T>C	NP_001278956.1:p.Asp184=
NM_001292028.2:c.204T>C	NP_001278957.1:p.Asp68=
NM_001374497.1:c.615T>C	NP_001361426.1:p.Asp205=
NM_001374498.1:c.624T>C	NP_001361427.1:p.Asp208=
NM_001374499.1:c.297T>C	NP_001361428.1:p.Asp99=
NM_001374500.1:c.183T>C	NP_001361429.1:p.Asp61=
NM_001374501.1:c.213T>C	NP_001361430.1:p.Asp71=
NM_001374502.1:c.213T>C	NP_001361431.1:p.Asp71=
NM_001374503.1:c.213T>C	NP_001361432.1:p.Asp71=
NR_164653.1:n.703T>C
NR_164654.1:n.891T>C