ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA11902522
Gene: STX18-AS1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.4646320C>T
GRCh37
chr4:g.4648047C>T
Linked Data - Sequence & Population
gnomAD v2:
4:4648047 C / T
gnomAD v3:
4:4646320 C / T
gnomAD v4:
chr4-4646320-C-T
Joint Max Group AF
0.29796513 (EAS)
Genomes Max Group AF
0.29796513 (EAS)
Linked Data - NCBI & NCI
dbSNP:
870142
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.4646320C>T , CM000666.2:g.4646320C>T
GRCh38
NC_000004.11:g.4648047C>T , CM000666.1:g.4648047C>T
GRCh37
NC_000004.10:g.4698948C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_037888.1:n.516-2657C>T
Search 100 bp 5'
Search 100 bp 3'