Canonical Allele Identifier: CA321167142
Gene:

Linked Data

dbSNP Id: rs949285752
gnomAD v3: 21-43168888-C-T
gnomAD v4: 21-43168888-C-T
MyVariant Identifiers: chr21:g.43168888C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43168888C>T , CM000683.2:g.43168888C>T GRCh38
NG_009823.1:g.4858C>T

Transcript Alleles

HGVS Amino-acid Change
XR_001755073.1:n.647+2149G>A
Search 100 bp 5'
Search 100 bp 3'