ClinGen Allele Registry
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Canonical Allele Identifier:
CA14927477
Gene: CBX7
HGNC
NCBI
Linked Data
dbSNP Id:
rs139371
gnomAD v2:
22-39519196-T-C
gnomAD v3:
22-39123191-T-C
gnomAD v4:
22-39123191-T-C
MyVariant Identifiers:
chr22:g.39519196T>C (hg19)
chr22:g.39123191T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.39123191T>C , CM000684.2:g.39123191T>C
GRCh38
NC_000022.10:g.39519196T>C , CM000684.1:g.39519196T>C
GRCh37
NC_000022.9:g.37849142T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000475962.5:n.45-2618A>G
Search 100 bp 5'
Search 100 bp 3'