Canonical Allele Identifier: CA259250702

Gene: EGLN3

Linked Data

• dbSNP Id: rs550658795
• gnomAD v2: 14-34844290-T-C
• gnomAD v3: 14-34375084-T-C
• gnomAD v4: 14-34375084-T-C
• MyVariant Identifiers: chr14:g.34844290T>C (hg19) ; chr14:g.34375084T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.34375084T>C , CM000676.2:g.34375084T>C	GRCh38
NC_000014.8:g.34844290T>C , CM000676.1:g.34844290T>C	GRCh37
NC_000014.7:g.33914041T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000551935.5:n.59+87632A>G