Canonical Allele Identifier: CA854410097

Gene: ADHFE1 VXN

Linked Data

• dbSNP Id: rs1168720193
• gnomAD v3: 8-66468978-T-G
• gnomAD v4: 8-66468978-T-G
• MyVariant Identifiers: chr8:g.67381213T>G (hg19) ; chr8:g.66468978T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66468978T>G , CM000670.2:g.66468978T>G	GRCh38
NC_000008.10:g.67381213T>G , CM000670.1:g.67381213T>G	GRCh37
NC_000008.9:g.67543767T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648156.1:c.*540-2452T>G	ENSP00000497007.1:n.*540-2452T>G
ENST00000480040.5:n.396-2452T>G (ADHFE1)
ENST00000482608.6:n.250+8513T>G (VXN)
ENST00000519702.5:n.162+8513T>G (VXN)