Canonical Allele Identifier: CA749618783

Gene:

Linked Data

• gnomAD v4: 21-43169007-T-C
• MyVariant Identifiers: chr21:g.43169007T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43169007T>C , CM000683.2:g.43169007T>C	GRCh38
NG_009823.1:g.4977T>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001755073.1:n.647+2030A>G