Canonical Allele Identifier: CA749618769
Gene:

Linked Data

dbSNP Id: rs1372587010
gnomAD v3: 21-43168970-A-C
gnomAD v4: 21-43168970-A-C
MyVariant Identifiers: chr21:g.43168970A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43168970A>C , CM000683.2:g.43168970A>C GRCh38
NG_009823.1:g.4940A>C

Transcript Alleles

HGVS Amino-acid Change
XR_001755073.1:n.647+2067T>G
Search 100 bp 5'
Search 100 bp 3'