ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA774666309
Gene: CASC17
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr17:g.71112514A>C
GRCh37
chr17:g.69108655A>C
Linked Data - Sequence & Population
gnomAD v3:
17:71112514 A / C
gnomAD v4:
chr17-71112514-A-C
Linked Data - NCBI & NCI
dbSNP:
1859961
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.71112514A>C , CM000679.2:g.71112514A>C
GRCh38
NC_000017.10:g.69108655A>C , CM000679.1:g.69108655A>C
GRCh37
NC_000017.9:g.66620250A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_104152.1:n.218-12896T>G
Search 100 bp 5'
Search 100 bp 3'