Canonical Allele Identifier: CA318813271

Gene:

Linked Data

• dbSNP Id: rs577361151
• gnomAD v2: 21-23631718-C-G
• gnomAD v3: 21-22259398-C-G
• gnomAD v4: 21-22259398-C-G
• MyVariant Identifiers: chr21:g.23631718C>G (hg19) ; chr21:g.22259398C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259398C>G , CM000683.2:g.22259398C>G	GRCh38
NC_000021.8:g.23631718C>G , CM000683.1:g.23631718C>G	GRCh37
NC_000021.7:g.22553589C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001754978.1:n.221+46585C>G