ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA14425032
Gene: CASC17
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr17:g.71112612G>T
GRCh37
chr17:g.69108753G>T
Linked Data - Sequence & Population
gnomAD v2:
17:69108753 G / T
gnomAD v3:
17:71112612 G / T
gnomAD v4:
chr17-71112612-G-T
Joint Max Group AF
0.68661435 (AFR)
Genomes Max Group AF
0.68661435 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1859962
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.71112612G>T , CM000679.2:g.71112612G>T
GRCh38
NC_000017.10:g.69108753G>T , CM000679.1:g.69108753G>T
GRCh37
NC_000017.9:g.66620348G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_104152.1:n.218-12994C>A
Search 100 bp 5'
Search 100 bp 3'