Canonical Allele Identifier: CA1114837197
Gene: ADHFE1 HGNC NCBI
VXN HGNC NCBI

Linked Data

dbSNP Id: rs1807320500
gnomAD v3: 8-66468979-T-C
gnomAD v4: 8-66468979-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.66468979T>C , CM000670.2:g.66468979T>C GRCh38
NC_000008.10:g.67381214T>C , CM000670.1:g.67381214T>C GRCh37
NC_000008.9:g.67543768T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000648156.1:c.*540-2451T>C ENSP00000497007.1:n.*540-2451T>C
ENST00000480040.5:n.396-2451T>C (ADHFE1)
ENST00000482608.6:n.250+8514T>C (VXN)
ENST00000519702.5:n.162+8514T>C (VXN)
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