Canonical Allele Identifier: CA562298985
Gene: HSD17B4 HGNC NCBI

Linked Data

dbSNP Id: rs1251442390
gnomAD v2: 5-118788140-T-C
gnomAD v3: 5-119452445-T-C
gnomAD v4: 5-119452445-T-C
MyVariant Identifiers: chr5:g.118788140T>C (hg19) chr5:g.119452445T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119452445T>C , CM000667.2:g.119452445T>C GRCh38
NC_000005.9:g.118788140T>C , CM000667.1:g.118788140T>C GRCh37
NC_000005.8:g.118816039T>C NCBI36
NG_008182.1:g.4993T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256216.10:c.-131T>C ENSP00000256216.6:n.-131T>C
NM_000414.3:c.-131T>C NP_000405.1:n.-131T>C
NM_001199292.1:c.-131T>C NP_001186221.1:n.-131T>C
NM_001292027.1:c.-268T>C NP_001278956.1:n.-268T>C
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