ClinGen Allele Registry
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Canonical Allele Identifier:
CA186004587
Gene: CCDC26
HGNC
NCBI
Linked Data
dbSNP Id:
rs1011105036
gnomAD v2:
8-130645737-C-T
gnomAD v3:
8-129633491-C-T
gnomAD v4:
8-129633491-C-T
MyVariant Identifiers:
chr8:g.130645737C>T (hg19)
chr8:g.129633491C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.129633491C>T , CM000670.2:g.129633491C>T
GRCh38
NC_000008.10:g.130645737C>T , CM000670.1:g.130645737C>T
GRCh37
NC_000008.9:g.130714919C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_130917.1:n.312+46437G>A
Search 100 bp 5'
Search 100 bp 3'