Canonical Allele Identifier: CA749618745
Gene:

Linked Data

dbSNP Id: rs1481832986
gnomAD v3: 21-43168896-G-C
gnomAD v4: 21-43168896-G-C
MyVariant Identifiers: chr21:g.43168896G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43168896G>C , CM000683.2:g.43168896G>C GRCh38
NG_009823.1:g.4866G>C

Transcript Alleles

HGVS Amino-acid Change
XR_001755073.1:n.647+2141C>G
Search 100 bp 5'
Search 100 bp 3'