Canonical Allele Identifier: CA318813277

Gene:

Linked Data

• dbSNP Id: rs762506203
• gnomAD v2: 21-23631735-G-T
• gnomAD v3: 21-22259415-G-T
• gnomAD v4: 21-22259415-G-T
• MyVariant Identifiers: chr21:g.23631735G>T (hg19) ; chr21:g.22259415G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259415G>T , CM000683.2:g.22259415G>T	GRCh38
NC_000021.8:g.23631735G>T , CM000683.1:g.23631735G>T	GRCh37
NC_000021.7:g.22553606G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001754978.1:n.221+46602G>T