Canonical Allele Identifier: CA514602910
Gene: CBX7 HGNC NCBI

Linked Data

dbSNP Id: rs1929855618
gnomAD v3: 22-39123221-G-A
gnomAD v4: 22-39123221-G-A
MyVariant Identifiers: chr22:g.39519226G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.39123221G>A , CM000684.2:g.39123221G>A GRCh38
NC_000022.10:g.39519226G>A , CM000684.1:g.39519226G>A GRCh37
NC_000022.9:g.37849172G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000475962.5:n.45-2648C>T
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