ClinGen Allele Registry
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Canonical Allele Identifier:
CA12886193
Gene: CASC11
HGNC
NCBI
Linked Data
dbSNP:
10094872
gnomAD v2:
8:128719884 A / T
gnomAD v3:
8:127707639 A / T
gnomAD v4:
chr8-127707639-A-T
Joint Max Group AF
0.36621967 (NFE)
Genomes Max Group AF
0.36621967 (NFE)
MyVariant.info:
GRCh38
chr8:g.127707639A>T
GRCh37
chr8:g.128719884A>T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127707639A>T , CM000670.2:g.127707639A>T
GRCh38
NC_000008.10:g.128719884A>T , CM000670.1:g.128719884A>T
GRCh37
NC_000008.9:g.128789066A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_117102.1:n.366-4396T>A
Search 100 bp 5'
Search 100 bp 3'