ClinGen Allele Registry
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Canonical Allele Identifier:
CA1119017365
Gene: CASC11
HGNC
NCBI
Linked Data
dbSNP Id:
rs1320568300
gnomAD v3:
8-127707627-G-A
gnomAD v4:
8-127707627-G-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127707627G>A , CM000670.2:g.127707627G>A
GRCh38
NC_000008.10:g.128719872G>A , CM000670.1:g.128719872G>A
GRCh37
NC_000008.9:g.128789054G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_117102.1:n.366-4384C>T
Search 100 bp 5'
Search 100 bp 3'