Canonical Allele Identifier:
CA2607962877
Gene:
Linked Data
gnomAD v4:
Y-8707899-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8707899C>A , CM000686.2:g.8707899C>A | GRCh38 |
| NC_000024.9:g.8575940C>A , CM000686.1:g.8575940C>A | GRCh37 |
| NC_000024.8:g.8635940C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623558.1:c.139+8867C>A | ENSP00000485446.1:n.139+8867C>A | |
| ENST00000624593.1:c.-57+40817G>T | ENSP00000485106.1:n.-57+40817G>T |