Canonical Allele Identifier:
CA113228726
Gene:
MyVariant.info:
GRCh38
chr4:g.189720016T>C
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80810572 (NFE)
Genomes Max Group AF
0.80810572 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.189720016T>C , CM000666.2:g.189720016T>C | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939636.1:n.401-1758A>G | ||
| XR_001741965.1:n.1952+1190A>G |