Canonical Allele Identifier:
CA2687741459
Gene:
Linked Data
gnomAD v4:
8-81478405-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478405C>A , CM000670.2:g.81478405C>A | GRCh38 |
| NC_000008.10:g.82390640C>A , CM000670.1:g.82390640C>A | GRCh37 |
| NC_000008.9:g.82553195C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745980.1:n.514+16431C>A |