Canonical Allele Identifier: CA2674977154

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119452520-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119452520C>T , CM000667.2:g.119452520C>T	GRCh38
NC_000005.9:g.118788215C>T , CM000667.1:g.118788215C>T	GRCh37
NC_000005.8:g.118816114C>T	NCBI36
NG_008182.1:g.5068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.-56C>T	ENSP00000426272.2:n.-56C>T
ENST00000682445.1:c.-56C>T	ENSP00000508061.1:n.-56C>T
ENST00000682996.1:c.-56C>T	ENSP00000507792.1:n.-56C>T
ENST00000683936.1:c.-56C>T	ENSP00000507721.1:n.-56C>T
ENST00000683974.1:n.27C>T
ENST00000684214.1:c.-56C>T	ENSP00000508071.1:n.-56C>T
ENST00000414835.7:c.-234C>T	ENSP00000411960.3:n.-234C>T
ENST00000510025.7:c.-56C>T MANE Select	ENSP00000424940.3:n.-56C>T
ENST00000646058.1:c.-56C>T	ENSP00000493579.1:n.-56C>T
ENST00000646590.1:c.-56C>T	ENSP00000494892.1:n.-56C>T
ENST00000256216.10:c.-56C>T	ENSP00000256216.6:n.-56C>T
ENST00000442060.7:c.-56C>T	ENSP00000390208.3:n.-56C>T
ENST00000511186.5:n.48C>T
ENST00000515235.6:n.5C>T
ENST00000515320.5:c.-56C>T	ENSP00000424613.1:n.-56C>T
NM_000414.3:c.-56C>T	NP_000405.1:n.-56C>T
NM_001199291.2:c.-234C>T	NP_001186220.1:n.-234C>T
NM_001199292.1:c.-56C>T	NP_001186221.1:n.-56C>T
NM_001292027.1:c.-193C>T	NP_001278956.1:n.-193C>T
NM_001292028.1:c.-655C>T	NP_001278957.1:n.-655C>T
NM_000414.4:c.-56C>T MANE Select	NP_000405.1:n.-56C>T
NM_001199291.3:c.-234C>T	NP_001186220.1:n.-234C>T
NM_001199292.2:c.-56C>T	NP_001186221.1:n.-56C>T
NM_001292027.2:c.-193C>T	NP_001278956.1:n.-193C>T
NM_001292028.2:c.-655C>T	NP_001278957.1:n.-655C>T
NM_001374497.1:c.-56C>T	NP_001361426.1:n.-56C>T
NM_001374498.1:c.-56C>T	NP_001361427.1:n.-56C>T
NM_001374499.1:c.-589C>T	NP_001361428.1:n.-589C>T
NM_001374500.1:c.-782C>T	NP_001361429.1:n.-782C>T
NM_001374501.1:c.-655C>T	NP_001361430.1:n.-655C>T
NM_001374502.1:c.-660C>T	NP_001361431.1:n.-660C>T
NM_001374503.1:c.-725C>T	NP_001361432.1:n.-725C>T
NR_164653.1:n.24C>T
NR_164654.1:n.24C>T