Canonical Allele Identifier: CA318813270

Gene:

Linked Data

• dbSNP Id: rs148630041
• gnomAD v2: 21-23631716-G-A
• gnomAD v3: 21-22259396-G-A
• gnomAD v4: 21-22259396-G-A
• MyVariant Identifiers: chr21:g.23631716G>A (hg19) ; chr21:g.22259396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259396G>A , CM000683.2:g.22259396G>A	GRCh38
NC_000021.8:g.23631716G>A , CM000683.1:g.23631716G>A	GRCh37
NC_000021.7:g.22553587G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001754978.1:n.221+46583G>A