Canonical Allele Identifier: CA321167155
Gene:

Linked Data

dbSNP Id: rs750655039
gnomAD v3: 21-43168920-C-T
gnomAD v4: 21-43168920-C-T
MyVariant Identifiers: chr21:g.43168920C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43168920C>T , CM000683.2:g.43168920C>T GRCh38
NG_009823.1:g.4890C>T

Transcript Alleles

HGVS Amino-acid Change
XR_001755073.1:n.647+2117G>A
Search 100 bp 5'
Search 100 bp 3'