Canonical Allele Identifier: CA1080719823

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1754139586
• gnomAD v3: 5-119452511-C-T
• gnomAD v4: 5-119452511-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119452511C>T , CM000667.2:g.119452511C>T	GRCh38
NC_000005.9:g.118788206C>T , CM000667.1:g.118788206C>T	GRCh37
NC_000005.8:g.118816105C>T	NCBI36
NG_008182.1:g.5059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.-65C>T	ENSP00000426272.2:n.-65C>T
ENST00000682996.1:c.-65C>T	ENSP00000507792.1:n.-65C>T
ENST00000683936.1:c.-65C>T	ENSP00000507721.1:n.-65C>T
ENST00000683974.1:n.18C>T
ENST00000684214.1:c.-65C>T	ENSP00000508071.1:n.-65C>T
ENST00000414835.7:c.-243C>T	ENSP00000411960.3:n.-243C>T
ENST00000510025.7:c.-65C>T MANE Select	ENSP00000424940.3:n.-65C>T
ENST00000646058.1:c.-65C>T	ENSP00000493579.1:n.-65C>T
ENST00000646590.1:c.-65C>T	ENSP00000494892.1:n.-65C>T
ENST00000256216.10:c.-65C>T	ENSP00000256216.6:n.-65C>T
ENST00000442060.7:c.-65C>T	ENSP00000390208.3:n.-65C>T
ENST00000511186.5:n.39C>T
ENST00000515320.5:c.-65C>T	ENSP00000424613.1:n.-65C>T
NM_000414.3:c.-65C>T	NP_000405.1:n.-65C>T
NM_001199291.2:c.-243C>T	NP_001186220.1:n.-243C>T
NM_001199292.1:c.-65C>T	NP_001186221.1:n.-65C>T
NM_001292027.1:c.-202C>T	NP_001278956.1:n.-202C>T
NM_001292028.1:c.-664C>T	NP_001278957.1:n.-664C>T
NM_000414.4:c.-65C>T MANE Select	NP_000405.1:n.-65C>T
NM_001199291.3:c.-243C>T	NP_001186220.1:n.-243C>T
NM_001199292.2:c.-65C>T	NP_001186221.1:n.-65C>T
NM_001292027.2:c.-202C>T	NP_001278956.1:n.-202C>T
NM_001292028.2:c.-664C>T	NP_001278957.1:n.-664C>T
NM_001374497.1:c.-65C>T	NP_001361426.1:n.-65C>T
NM_001374498.1:c.-65C>T	NP_001361427.1:n.-65C>T
NM_001374499.1:c.-598C>T	NP_001361428.1:n.-598C>T
NM_001374500.1:c.-791C>T	NP_001361429.1:n.-791C>T
NM_001374501.1:c.-664C>T	NP_001361430.1:n.-664C>T
NM_001374502.1:c.-669C>T	NP_001361431.1:n.-669C>T
NM_001374503.1:c.-734C>T	NP_001361432.1:n.-734C>T
NR_164653.1:n.15C>T
NR_164654.1:n.15C>T