Canonical Allele Identifier: CA705189889

Gene: EGLN3

Linked Data

• dbSNP Id: rs1330868118
• gnomAD v3: 14-34375112-G-A
• gnomAD v4: 14-34375112-G-A
• MyVariant Identifiers: chr14:g.34844318G>A (hg19) ; chr14:g.34375112G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.34375112G>A , CM000676.2:g.34375112G>A	GRCh38
NC_000014.8:g.34844318G>A , CM000676.1:g.34844318G>A	GRCh37
NC_000014.7:g.33914069G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000551935.5:n.59+87604C>T