Canonical Allele Identifier: CA2687480463
Gene: ADHFE1 HGNC NCBI
VXN HGNC NCBI

Linked Data

gnomAD v4: 8-66468950-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.66468950C>A , CM000670.2:g.66468950C>A GRCh38
NC_000008.10:g.67381185C>A , CM000670.1:g.67381185C>A GRCh37
NC_000008.9:g.67543739C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000648156.1:c.*540-2480C>A ENSP00000497007.1:n.*540-2480C>A
ENST00000480040.5:n.396-2480C>A (ADHFE1)
ENST00000482608.6:n.250+8485C>A (VXN)
ENST00000519702.5:n.162+8485C>A (VXN)
Search 100 bp 5'
Search 100 bp 3'