Canonical Allele Identifier: CA178472041
Gene: ADHFE1 HGNC NCBI
VXN HGNC NCBI

Linked Data

dbSNP Id: rs915700377
gnomAD v2: 8-67381198-A-G
gnomAD v3: 8-66468963-A-G
gnomAD v4: 8-66468963-A-G
MyVariant Identifiers: chr8:g.67381198A>G (hg19) chr8:g.66468963A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.66468963A>G , CM000670.2:g.66468963A>G GRCh38
NC_000008.10:g.67381198A>G , CM000670.1:g.67381198A>G GRCh37
NC_000008.9:g.67543752A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000648156.1:c.*540-2467A>G ENSP00000497007.1:n.*540-2467A>G
ENST00000480040.5:n.396-2467A>G (ADHFE1)
ENST00000482608.6:n.250+8498A>G (VXN)
ENST00000519702.5:n.162+8498A>G (VXN)
Search 100 bp 5'
Search 100 bp 3'