Canonical Allele Identifier: CA2687480459
Gene: ADHFE1 HGNC NCBI
VXN HGNC NCBI

Linked Data

gnomAD v4: 8-66468935-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.66468935C>A , CM000670.2:g.66468935C>A GRCh38
NC_000008.10:g.67381170C>A , CM000670.1:g.67381170C>A GRCh37
NC_000008.9:g.67543724C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000648156.1:c.*540-2495C>A ENSP00000497007.1:n.*540-2495C>A
ENST00000480040.5:n.396-2495C>A (ADHFE1)
ENST00000482608.6:n.250+8470C>A (VXN)
ENST00000519702.5:n.162+8470C>A (VXN)
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