Canonical Allele Identifier: CA562298991
Gene: HSD17B4 HGNC NCBI

Linked Data

dbSNP Id: rs1163630246
gnomAD v2: 5-118788189-G-T
gnomAD v3: 5-119452494-G-T
gnomAD v4: 5-119452494-G-T
MyVariant Identifiers: chr5:g.118788189G>T (hg19) chr5:g.119452494G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119452494G>T , CM000667.2:g.119452494G>T GRCh38
NC_000005.9:g.118788189G>T , CM000667.1:g.118788189G>T GRCh37
NC_000005.8:g.118816088G>T NCBI36
NG_008182.1:g.5042G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.-82G>T ENSP00000426272.2:n.-82G>T
ENST00000682996.1:c.-82G>T ENSP00000507792.1:n.-82G>T
ENST00000683936.1:c.-82G>T ENSP00000507721.1:n.-82G>T
ENST00000683974.1:n.1G>T
ENST00000684214.1:c.-82G>T ENSP00000508071.1:n.-82G>T
ENST00000256216.10:c.-82G>T ENSP00000256216.6:n.-82G>T
ENST00000511186.5:n.22G>T
NM_000414.3:c.-82G>T NP_000405.1:n.-82G>T
NM_001199292.1:c.-82G>T NP_001186221.1:n.-82G>T
NM_001292027.1:c.-219G>T NP_001278956.1:n.-219G>T
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