Canonical Allele Identifier: CA1114837194
Gene: ADHFE1 HGNC NCBI
VXN HGNC NCBI

Linked Data

dbSNP Id: rs1807319985
gnomAD v3: 8-66468961-A-G
gnomAD v4: 8-66468961-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.66468961A>G , CM000670.2:g.66468961A>G GRCh38
NC_000008.10:g.67381196A>G , CM000670.1:g.67381196A>G GRCh37
NC_000008.9:g.67543750A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000648156.1:c.*540-2469A>G ENSP00000497007.1:n.*540-2469A>G
ENST00000480040.5:n.396-2469A>G (ADHFE1)
ENST00000482608.6:n.250+8496A>G (VXN)
ENST00000519702.5:n.162+8496A>G (VXN)
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