Canonical Allele Identifier:
CA2686840918
Gene:
Linked Data
gnomAD v4:
8-31176639-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31176639G>A , CM000670.2:g.31176639G>A | GRCh38 |
| NC_000008.10:g.31034155G>A , CM000670.1:g.31034155G>A | GRCh37 |
| NC_000008.9:g.31153697G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_949642.1:n.270+50G>A | ||
| XR_949643.1:n.87+53C>T | ||
| XR_949644.1:n.87+53C>T | ||
| XR_949645.1:n.87+53C>T | ||
| XR_949646.1:n.87+53C>T | ||
| XR_949647.1:n.700+53C>T | ||
| XR_949648.1:n.602+53C>T |