ClinGen Allele Registry
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Canonical Allele Identifier:
CA12886148
Gene: CCAT1
HGNC
NCBI
Linked Data
dbSNP Id:
rs10087719
gnomAD v2:
8-128228863-A-G
gnomAD v3:
8-127216618-A-G
gnomAD v4:
8-127216618-A-G
MyVariant Identifiers:
chr8:g.128228863A>G (hg19)
chr8:g.127216618A>G (hg38)
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'