Canonical Allele Identifier: CA318813254

Gene:

Linked Data

• dbSNP Id: rs949469939
• gnomAD v3: 21-22259275-T-C
• gnomAD v4: 21-22259275-T-C
• MyVariant Identifiers: chr21:g.23631595T>C (hg19) ; chr21:g.22259275T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259275T>C , CM000683.2:g.22259275T>C	GRCh38
NC_000021.8:g.23631595T>C , CM000683.1:g.23631595T>C	GRCh37
NC_000021.7:g.22553466T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001754978.1:n.221+46462T>C