Canonical Allele Identifier:
CA2651630782
Gene:
Linked Data
gnomAD v4:
20-2471000-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2471000C>A , CM000682.2:g.2471000C>A | GRCh38 |
| NC_000020.10:g.2451646C>A , CM000682.1:g.2451646C>A | GRCh37 |
| NC_000020.9:g.2399646C>A | NCBI36 |
| NG_042057.1:g.4854G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461548.1:c.305-3242G>T | ENSP00000456213.1:n.305-3242G>T |