Canonical Allele Identifier: CA3381892

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 1202909
• ClinVar RCV Id: RCV001568760
• dbSNP Id: rs761601392
• ExAC: 5:118814708 T / C
• gnomAD v2: 5-118814708-T-C
• gnomAD v3: 5-119479013-T-C
• gnomAD v4: 5-119479013-T-C
• MyVariant Identifiers: chr5:g.118814708T>C (hg19) ; chr5:g.119479013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479013T>C , CM000667.2:g.119479013T>C	GRCh38
NC_000005.9:g.118814708T>C , CM000667.1:g.118814708T>C	GRCh37
NC_000005.8:g.118842607T>C	NCBI36
NG_008182.1:g.31561T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.614T>C	ENSP00000426272.2:p.Met205Thr
ENST00000518349.6:c.113-17530T>C	ENSP00000507185.1:n.113-17530T>C
ENST00000682445.1:c.*495T>C	ENSP00000508061.1:n.*495T>C
ENST00000682531.1:n.715T>C
ENST00000682626.1:c.*120T>C	ENSP00000507857.1:n.*120T>C
ENST00000682996.1:c.614T>C	ENSP00000507792.1:p.Met205Thr
ENST00000683265.1:n.707T>C
ENST00000683371.1:c.*744T>C	ENSP00000508376.1:n.*744T>C
ENST00000683390.1:n.2304T>C
ENST00000683549.1:n.535T>C
ENST00000683936.1:c.*499T>C	ENSP00000507721.1:n.*499T>C
ENST00000683974.1:n.696T>C
ENST00000683996.1:c.203T>C	ENSP00000507060.1:p.Met68Thr
ENST00000684131.1:n.453T>C
ENST00000684160.1:c.*304T>C	ENSP00000507821.1:n.*304T>C
ENST00000684214.1:c.614T>C	ENSP00000508071.1:p.Met205Thr
ENST00000414835.7:c.689T>C	ENSP00000411960.3:p.Met230Thr
ENST00000510025.7:c.614T>C MANE Select	ENSP00000424940.3:p.Met205Thr
ENST00000643250.1:c.*486T>C	ENSP00000494737.1:n.*486T>C
ENST00000644146.1:c.*192T>C	ENSP00000494808.1:n.*192T>C
ENST00000645099.1:c.173T>C	ENSP00000496091.1:p.Met58Thr
ENST00000645702.1:c.203T>C	ENSP00000496432.1:p.Met68Thr
ENST00000645832.1:c.*499T>C	ENSP00000494316.1:n.*499T>C
ENST00000646058.1:c.614T>C	ENSP00000493579.1:p.Met205Thr
ENST00000646355.1:c.*620T>C	ENSP00000493801.1:n.*620T>C
ENST00000646554.1:c.*592T>C	ENSP00000494542.1:n.*592T>C
ENST00000647335.1:c.*581T>C	ENSP00000495180.1:n.*581T>C
ENST00000647342.1:c.*545T>C	ENSP00000494992.1:n.*545T>C
ENST00000256216.10:c.614T>C	ENSP00000256216.6:p.Met205Thr
ENST00000414835.6:c.194T>C	ENSP00000411960.2:p.Met65Thr
ENST00000442060.7:c.614T>C	ENSP00000390208.3:p.Met205Thr
ENST00000504811.5:c.689T>C	ENSP00000420914.1:p.Met230Thr
ENST00000505181.5:n.317T>C
ENST00000509514.5:c.-271T>C	ENSP00000426272.1:n.-271T>C
ENST00000510025.5:c.542T>C	ENSP00000424940.1:p.Met181Thr
ENST00000512644.1:n.182T>C
ENST00000513628.5:c.203T>C	ENSP00000425993.1:p.Met68Thr
ENST00000515235.6:n.674T>C
ENST00000515320.5:c.560T>C	ENSP00000424613.1:p.Met187Thr
NM_000414.3:c.614T>C	NP_000405.1:p.Met205Thr
NM_001199291.2:c.689T>C	NP_001186220.1:p.Met230Thr
NM_001199292.1:c.560T>C	NP_001186221.1:p.Met187Thr
NM_001292027.1:c.542T>C	NP_001278956.1:p.Met181Thr
NM_001292028.1:c.194T>C	NP_001278957.1:p.Met65Thr
NM_000414.4:c.614T>C MANE Select	NP_000405.1:p.Met205Thr
NM_001199291.3:c.689T>C	NP_001186220.1:p.Met230Thr
NM_001199292.2:c.560T>C	NP_001186221.1:p.Met187Thr
NM_001292027.2:c.542T>C	NP_001278956.1:p.Met181Thr
NM_001292028.2:c.194T>C	NP_001278957.1:p.Met65Thr
NM_001374497.1:c.605T>C	NP_001361426.1:p.Met202Thr
NM_001374498.1:c.614T>C	NP_001361427.1:p.Met205Thr
NM_001374499.1:c.287T>C	NP_001361428.1:p.Met96Thr
NM_001374500.1:c.173T>C	NP_001361429.1:p.Met58Thr
NM_001374501.1:c.203T>C	NP_001361430.1:p.Met68Thr
NM_001374502.1:c.203T>C	NP_001361431.1:p.Met68Thr
NM_001374503.1:c.203T>C	NP_001361432.1:p.Met68Thr
NR_164653.1:n.693T>C
NR_164654.1:n.881T>C