Canonical Allele Identifier:
CA29879453
Gene:
MyVariant.info:
GRCh38
chr1:g.147037378T>C
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95974379 (EAS)
Genomes Max Group AF
0.95974379 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147037378T>C , CM000663.2:g.147037378T>C | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444082.2:n.988+4018A>G | ||
| ENST00000444082.1:n.2902+4018A>G | ||
| NR_024442.2:n.90+5572A>G |