ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA12291837
Gene:
Linked Data
dbSNP:
2523822
gnomAD v2:
6:29828660 A / G
gnomAD v3:
6:29860883 A / G
gnomAD v4:
chr6-29860883-A-G
Joint Max Group AF
0.33989582 (EAS)
Genomes Max Group AF
0.33989582 (EAS)
MyVariant.info:
GRCh38
chr6:g.29860883A>G
GRCh37
chr6:g.29828660A>G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.29860883A>G , CM000668.2:g.29860883A>G
GRCh38
NC_000006.11:g.29828660A>G , CM000668.1:g.29828660A>G
GRCh37
NC_000006.10:g.29936639A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000647952.1:n.2063-3445T>C
Search 100 bp 5'
Search 100 bp 3'