Canonical Allele Identifier: CA318813282

Gene:

Linked Data

• dbSNP Id: rs755985185
• gnomAD v2: 21-23631801-T-C
• gnomAD v3: 21-22259481-T-C
• gnomAD v4: 21-22259481-T-C
• MyVariant Identifiers: chr21:g.23631801T>C (hg19) ; chr21:g.23631801_23631802delinsCG (hg19) ; chr21:g.22259481T>C (hg38) ; chr21:g.22259481_22259482delinsCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259481T>C , CM000683.2:g.22259481T>C	GRCh38
NC_000021.8:g.23631801T>C , CM000683.1:g.23631801T>C	GRCh37
NC_000021.7:g.22553672T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001754978.1:n.221+46668T>C