Canonical Allele Identifier: CA15815384
Gene: EGLN3 HGNC NCBI

Linked Data

dbSNP Id: rs1958589
gnomAD v2: 14-34844376-T-C
gnomAD v3: 14-34375170-T-C
gnomAD v4: 14-34375170-T-C
MyVariant Identifiers: chr14:g.34844376T>C (hg19) chr14:g.34375170T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.34375170T>C , CM000676.2:g.34375170T>C GRCh38
NC_000014.8:g.34844376T>C , CM000676.1:g.34844376T>C GRCh37
NC_000014.7:g.33914127T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000551935.5:n.59+87546A>G
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