Canonical Allele Identifier: CA802755237
Gene: HSD17B4 HGNC NCBI

Linked Data

dbSNP Id: rs574383895
gnomAD v3: 5-119452453-C-G
gnomAD v4: 5-119452453-C-G
MyVariant Identifiers: chr5:g.118788148C>G (hg19) chr5:g.119452453C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119452453C>G , CM000667.2:g.119452453C>G GRCh38
NC_000005.9:g.118788148C>G , CM000667.1:g.118788148C>G GRCh37
NC_000005.8:g.118816047C>G NCBI36
NG_008182.1:g.5001C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256216.10:c.-123C>G ENSP00000256216.6:n.-123C>G
NM_000414.3:c.-123C>G NP_000405.1:n.-123C>G
NM_001199292.1:c.-123C>G NP_001186221.1:n.-123C>G
NM_001292027.1:c.-260C>G NP_001278956.1:n.-260C>G
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