Canonical Allele Identifier: CA3381562

Gene: HSD17B4

Linked Data

• dbSNP Id: rs773802223
• ExAC: 5:118788221 G / C
• gnomAD v2: 5-118788221-G-C
• gnomAD v4: 5-119452526-G-C
• MyVariant Identifiers: chr5:g.118788221G>C (hg19) ; chr5:g.119452526G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119452526G>C , CM000667.2:g.119452526G>C	GRCh38
NC_000005.9:g.118788221G>C , CM000667.1:g.118788221G>C	GRCh37
NC_000005.8:g.118816120G>C	NCBI36
NG_008182.1:g.5074G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.-50G>C	ENSP00000426272.2:n.-50G>C
ENST00000518349.6:c.-50G>C	ENSP00000507185.1:n.-50G>C
ENST00000682445.1:c.-50G>C	ENSP00000508061.1:n.-50G>C
ENST00000682996.1:c.-50G>C	ENSP00000507792.1:n.-50G>C
ENST00000683371.1:c.-50G>C	ENSP00000508376.1:n.-50G>C
ENST00000683936.1:c.-50G>C	ENSP00000507721.1:n.-50G>C
ENST00000683974.1:n.33G>C
ENST00000684214.1:c.-50G>C	ENSP00000508071.1:n.-50G>C
ENST00000414835.7:c.-228G>C	ENSP00000411960.3:n.-228G>C
ENST00000510025.7:c.-50G>C MANE Select	ENSP00000424940.3:n.-50G>C
ENST00000646058.1:c.-50G>C	ENSP00000493579.1:n.-50G>C
ENST00000646590.1:c.-50G>C	ENSP00000494892.1:n.-50G>C
ENST00000256216.10:c.-50G>C	ENSP00000256216.6:n.-50G>C
ENST00000442060.7:c.-50G>C	ENSP00000390208.3:n.-50G>C
ENST00000511186.5:n.54G>C
ENST00000515235.6:n.11G>C
ENST00000515320.5:c.-50G>C	ENSP00000424613.1:n.-50G>C
NM_000414.3:c.-50G>C	NP_000405.1:n.-50G>C
NM_001199291.2:c.-228G>C	NP_001186220.1:n.-228G>C
NM_001199292.1:c.-50G>C	NP_001186221.1:n.-50G>C
NM_001292027.1:c.-187G>C	NP_001278956.1:n.-187G>C
NM_001292028.1:c.-649G>C	NP_001278957.1:n.-649G>C
NM_000414.4:c.-50G>C MANE Select	NP_000405.1:n.-50G>C
NM_001199291.3:c.-228G>C	NP_001186220.1:n.-228G>C
NM_001199292.2:c.-50G>C	NP_001186221.1:n.-50G>C
NM_001292027.2:c.-187G>C	NP_001278956.1:n.-187G>C
NM_001292028.2:c.-649G>C	NP_001278957.1:n.-649G>C
NM_001374497.1:c.-50G>C	NP_001361426.1:n.-50G>C
NM_001374498.1:c.-50G>C	NP_001361427.1:n.-50G>C
NM_001374499.1:c.-583G>C	NP_001361428.1:n.-583G>C
NM_001374500.1:c.-776G>C	NP_001361429.1:n.-776G>C
NM_001374501.1:c.-649G>C	NP_001361430.1:n.-649G>C
NM_001374502.1:c.-654G>C	NP_001361431.1:n.-654G>C
NM_001374503.1:c.-719G>C	NP_001361432.1:n.-719G>C
NR_164653.1:n.30G>C
NR_164654.1:n.30G>C