Canonical Allele Identifier: CA4853031
Gene: RAD21 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.116857221A>G
GRCh37 chr8:g.117869460A>G
gnomAD v2:
8:117869460 A / G
gnomAD v3:
8:116857221 A / G
gnomAD v4:
chr8-116857221-A-G
Joint Max Group AF 0.47025795 (SAS)
Genomes Max Group AF 0.45644479 (SAS)
Exomes Max Group AF 0.47023455 (SAS)
ClinVar RCV:
RCV000834398
ClinVar Variation:
675063
dbSNP:
16888927
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.116857221A>G , CM000670.2:g.116857221A>G GRCh38
NC_000008.10:g.117869460A>G , CM000670.1:g.117869460A>G GRCh37
NC_000008.9:g.117938641A>G NCBI36
NG_032862.1:g.22646T>C , LRG_772:g.22646T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000517485.6:c.688+46T>C ENSP00000427923.2:n.688+46T>C
ENST00000517749.2:c.688+46T>C ENSP00000430273.2:n.688+46T>C
ENST00000519837.6:c.688+46T>C ENSP00000430524.2:n.688+46T>C
ENST00000520992.6:c.688+46T>C ENSP00000429342.2:n.688+46T>C
ENST00000522699.2:c.688+46T>C ENSP00000428158.2:n.688+46T>C
ENST00000523547.2:n.798+46T>C
ENST00000523986.6:n.40T>C
ENST00000685972.1:n.771+46T>C
ENST00000686622.1:n.831T>C
ENST00000687122.1:n.3516+46T>C
ENST00000687358.1:c.688+46T>C ENSP00000509687.1:n.688+46T>C
ENST00000687902.1:c.688+46T>C ENSP00000510729.1:n.688+46T>C
ENST00000688033.1:n.758+46T>C
ENST00000689124.1:n.902+46T>C
ENST00000689504.1:n.798+46T>C
ENST00000690166.1:n.634T>C
ENST00000690189.1:n.2503+46T>C
ENST00000297338.7:c.688+46T>C MANE Select ENSP00000297338.2:n.688+46T>C
ENST00000297338.6:c.688+46T>C ENSP00000297338.2:n.688+46T>C
NM_006265.2:c.688+46T>C , LRG_772t1:c.688+46T>C NP_006256.1:n.688+46T>C
NM_006265.3:c.688+46T>C MANE Select NP_006256.1:n.688+46T>C
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