Canonical Allele Identifier: CA749618738
Gene:

Linked Data

dbSNP Id: rs1209136784
gnomAD v3: 21-43168884-C-G
gnomAD v4: 21-43168884-C-G
MyVariant Identifiers: chr21:g.43168884C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43168884C>G , CM000683.2:g.43168884C>G GRCh38
NG_009823.1:g.4854C>G

Transcript Alleles

HGVS Amino-acid Change
XR_001755073.1:n.647+2153G>C
Search 100 bp 5'
Search 100 bp 3'