ClinGen Allele Registry
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Canonical Allele Identifier:
CA12886148
Gene: CCAT1
HGNC
NCBI
Linked Data
dbSNP:
10087719
gnomAD v2:
8:128228863 A / G
gnomAD v3:
8:127216618 A / G
gnomAD v4:
chr8-127216618-A-G
Joint Max Group AF
0.27441485 (NFE)
Genomes Max Group AF
0.27441485 (NFE)
MyVariant.info:
GRCh38
chr8:g.127216618A>G
GRCh37
chr8:g.128228863A>G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127216618A>G , CM000670.2:g.127216618A>G
GRCh38
NC_000008.10:g.128228863A>G , CM000670.1:g.128228863A>G
GRCh37
NC_000008.9:g.128298045A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_108049.1:n.459+2192T>C
Search 100 bp 5'
Search 100 bp 3'