Canonical Allele Identifier: CA178472039

Gene: ADHFE1 VXN

Linked Data

• dbSNP Id: rs187899479
• gnomAD v2: 8-67381182-T-C
• gnomAD v3: 8-66468947-T-C
• gnomAD v4: 8-66468947-T-C
• MyVariant Identifiers: chr8:g.67381182T>C (hg19) ; chr8:g.66468947T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66468947T>C , CM000670.2:g.66468947T>C	GRCh38
NC_000008.10:g.67381182T>C , CM000670.1:g.67381182T>C	GRCh37
NC_000008.9:g.67543736T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648156.1:c.*540-2483T>C	ENSP00000497007.1:n.*540-2483T>C
ENST00000480040.5:n.396-2483T>C (ADHFE1)
ENST00000482608.6:n.250+8482T>C (VXN)
ENST00000519702.5:n.162+8482T>C (VXN)