Canonical Allele Identifier: CA2687480462

Linked Data

gnomAD v4: 8-66468941-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.66468941G>T , CM000670.2:g.66468941G>T GRCh38
NC_000008.10:g.67381176G>T , CM000670.1:g.67381176G>T GRCh37
NC_000008.9:g.67543730G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000648156.1:c.*540-2489G>T ENSP00000497007.1:n.*540-2489G>T
ENST00000480040.5:n.396-2489G>T (ADHFE1)
ENST00000482608.6:n.250+8476G>T (VXN)
ENST00000519702.5:n.162+8476G>T (VXN)