Canonical Allele Identifier: CA854410114

Gene: ADHFE1 VXN

Linked Data

• dbSNP Id: rs1274079721
• MyVariant Identifiers: chr8:g.67381261_67381264del (hg19) ; chr8:g.66469026_66469029del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66469031_66469034del , CM000670.2:g.66469031_66469034del	GRCh38
NC_000008.10:g.67381266_67381269del , CM000670.1:g.67381266_67381269del	GRCh37
NC_000008.9:g.67543820_67543823del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648156.1:c.*540-2399_*540-2396del	ENSP00000497007.1:n.*540-2399_*540-2396del
ENST00000480040.5:n.396-2399_396-2396del (ADHFE1)
ENST00000482608.6:n.250+8566_250+8569del (VXN)
ENST00000519702.5:n.162+8566_162+8569del (VXN)