Canonical Allele Identifier: CA1114837195

Linked Data

dbSNP Id: rs1807320128
gnomAD v3: 8-66468967-G-C
gnomAD v4: 8-66468967-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.66468967G>C , CM000670.2:g.66468967G>C GRCh38
NC_000008.10:g.67381202G>C , CM000670.1:g.67381202G>C GRCh37
NC_000008.9:g.67543756G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000648156.1:c.*540-2463G>C ENSP00000497007.1:n.*540-2463G>C
ENST00000480040.5:n.396-2463G>C (ADHFE1)
ENST00000482608.6:n.250+8502G>C (VXN)
ENST00000519702.5:n.162+8502G>C (VXN)