Canonical Allele Identifier: CA321167162

Gene:

Linked Data

• gnomAD v4: 21-43168921-G-A
• MyVariant Identifiers: chr21:g.43168921G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43168921G>A , CM000683.2:g.43168921G>A	GRCh38
NG_009823.1:g.4891G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001755073.1:n.647+2116C>T