Canonical Allele Identifier: CA321167136
Gene:

Linked Data

dbSNP Id: rs913814070
gnomAD v4: 21-43168875-C-T
MyVariant Identifiers: chr21:g.43168875C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43168875C>T , CM000683.2:g.43168875C>T GRCh38
NG_009823.1:g.4845C>T

Transcript Alleles

HGVS Amino-acid Change
XR_001755073.1:n.647+2162G>A
Search 100 bp 5'
Search 100 bp 3'