Allele Registry

Canonical Allele Identifier: CA14888672

Gene:

Linked Data

dbSNP:

1736148

gnomAD v2:

21:16813212 T / C

gnomAD v3:

21:15440893 T / C

gnomAD v4:

chr21-15440893-T-C

Joint Max Group AF 0.58552383 (AFR)

Genomes Max Group AF 0.58552383 (AFR)

MyVariant.info:

GRCh38 chr21:g.15440893T>C

GRCh37 chr21:g.16813212T>C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.15440893T>C , CM000683.2:g.15440893T>C	GRCh38
NC_000021.8:g.16813212T>C , CM000683.1:g.16813212T>C	GRCh37
NC_000021.7:g.15735083T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_937593.1:n.552+333A>G
XR_001754965.2:n.468+3131A>G
XR_001754970.2:n.468+3131A>G
XR_001754971.2:n.468+3131A>G

Search 100 bp 5'

Search 100 bp 3'