Canonical Allele Identifier: CA14053461

Gene: EGLN3

Linked Data

• dbSNP Id: rs77586771
• gnomAD v2: 14-34844312-C-T
• gnomAD v3: 14-34375106-C-T
• gnomAD v4: 14-34375106-C-T
• MyVariant Identifiers: chr14:g.34844312C>T (hg19) ; chr14:g.34375106C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.34375106C>T , CM000676.2:g.34375106C>T	GRCh38
NC_000014.8:g.34844312C>T , CM000676.1:g.34844312C>T	GRCh37
NC_000014.7:g.33914063C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000551935.5:n.59+87610G>A