Canonical Allele Identifier: CA613476630

Gene: EGLN3

Linked Data

• dbSNP Id: rs1316902676
• gnomAD v2: 14-34844294-T-G
• gnomAD v3: 14-34375088-T-G
• gnomAD v4: 14-34375088-T-G
• MyVariant Identifiers: chr14:g.34844294T>G (hg19) ; chr14:g.34375088T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.34375088T>G , CM000676.2:g.34375088T>G	GRCh38
NC_000014.8:g.34844294T>G , CM000676.1:g.34844294T>G	GRCh37
NC_000014.7:g.33914045T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000551935.5:n.59+87628A>C