ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA111171144
Gene: ADAM29
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr4:g.174894978T>C
GRCh37
chr4:g.175816129T>C
Linked Data - Sequence & Population
gnomAD v2:
4:175816129 T / C
gnomAD v3:
4:174894978 T / C
gnomAD v4:
chr4-174894978-T-C
Joint Max Group AF
0.78771966 (NFE)
Genomes Max Group AF
0.78771966 (NFE)
Linked Data - NCBI & NCI
dbSNP:
6858430
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.174894978T>C , CM000666.2:g.174894978T>C
GRCh38
NC_000004.11:g.175816129T>C , CM000666.1:g.175816129T>C
GRCh37
NC_000004.10:g.176052704T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000507969.5:n.345-36008T>C
Search 100 bp 5'
Search 100 bp 3'