Canonical Allele Identifier: CA14878282

Gene:

Linked Data

• dbSNP Id: rs239713
• gnomAD v2: 21-28696476-T-C
• gnomAD v3: 21-27324157-T-C
• gnomAD v4: 21-27324157-T-C
• MyVariant Identifiers: chr21:g.28696476T>C (hg19) ; chr21:g.27324157T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.27324157T>C , CM000683.2:g.27324157T>C	GRCh38
NC_000021.8:g.28696476T>C , CM000683.1:g.28696476T>C	GRCh37
NC_000021.7:g.27618347T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_430359.2:n.834+26342A>G
XR_937629.1:n.834+26342A>G
XR_937630.1:n.834+26342A>G
XR_430359.3:n.847+26342A>G
XR_937629.2:n.847+26342A>G