Canonical Allele Identifier: CA125915026

Gene: HSD17B4

Linked Data

• dbSNP Id: rs563018796
• gnomAD v3: 5-119452485-C-T
• gnomAD v4: 5-119452485-C-T
• MyVariant Identifiers: chr5:g.118788180C>T (hg19) ; chr5:g.119452485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119452485C>T , CM000667.2:g.119452485C>T	GRCh38
NC_000005.9:g.118788180C>T , CM000667.1:g.118788180C>T	GRCh37
NC_000005.8:g.118816079C>T	NCBI36
NG_008182.1:g.5033C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.-91C>T	ENSP00000426272.2:n.-91C>T
ENST00000682996.1:c.-91C>T	ENSP00000507792.1:n.-91C>T
ENST00000683936.1:c.-91C>T	ENSP00000507721.1:n.-91C>T
ENST00000684214.1:c.-91C>T	ENSP00000508071.1:n.-91C>T
ENST00000256216.10:c.-91C>T	ENSP00000256216.6:n.-91C>T
ENST00000511186.5:n.13C>T
NM_000414.3:c.-91C>T	NP_000405.1:n.-91C>T
NM_001199292.1:c.-91C>T	NP_001186221.1:n.-91C>T
NM_001292027.1:c.-228C>T	NP_001278956.1:n.-228C>T