Canonical Allele Identifier: CA2520373381
Gene: ADHFE1 HGNC NCBI
VXN HGNC NCBI

Linked Data

gnomAD v4: 8-66468945-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.66468945G>T , CM000670.2:g.66468945G>T GRCh38
NC_000008.10:g.67381180G>T , CM000670.1:g.67381180G>T GRCh37
NC_000008.9:g.67543734G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000648156.1:c.*540-2485G>T ENSP00000497007.1:n.*540-2485G>T
ENST00000480040.5:n.396-2485G>T (ADHFE1)
ENST00000482608.6:n.250+8480G>T (VXN)
ENST00000519702.5:n.162+8480G>T (VXN)
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