Canonical Allele Identifier: CA2674977098
Gene: HSD17B4 HGNC NCBI

Linked Data

dbSNP Id: rs2126589585
gnomAD v4: 5-119452464-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119452464C>T , CM000667.2:g.119452464C>T GRCh38
NC_000005.9:g.118788159C>T , CM000667.1:g.118788159C>T GRCh37
NC_000005.8:g.118816058C>T NCBI36
NG_008182.1:g.5012C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256216.10:c.-112C>T ENSP00000256216.6:n.-112C>T
NM_000414.3:c.-112C>T NP_000405.1:n.-112C>T
NM_001199292.1:c.-112C>T NP_001186221.1:n.-112C>T
NM_001292027.1:c.-249C>T NP_001278956.1:n.-249C>T
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