Canonical Allele Identifier:
CA1067052361
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.116012923C>G , CM000666.2:g.116012923C>G | GRCh38 |
| NC_000004.11:g.116934079C>G , CM000666.1:g.116934079C>G | GRCh37 |
| NC_000004.10:g.117153528C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508414.5:n.337-90788G>C |