Canonical Allele Identifier: CA10654641
Gene:

Linked Data

ClinVar Variation Id: 369361
ClinVar RCV Id: RCV000263760 RCV000319002 RCV000372373
dbSNP Id: rs76210431
gnomAD v2: 21-35884576-T-C
gnomAD v3: 21-34512278-T-C
gnomAD v4: 21-34512278-T-C
MyVariant Identifiers: chr21:g.35884576T>C (hg19) chr21:g.34512278T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34512278T>C , CM000683.2:g.34512278T>C GRCh38
NC_000021.8:g.35884576T>C , CM000683.1:g.35884576T>C GRCh37
NC_000021.7:g.34806446T>C NCBI36
NG_009091.1:g.4038A>G , LRG_290:g.4038A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682732.1:n.565-60A>G
ENST00000684114.1:c.489-60A>G
ENST00000684541.1:c.422-60A>G ENSP00000508287.1:n.422-60A>G
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