ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA16455261
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.106556209G>A
GRCh37
chr12:g.106949987G>A
Linked Data - Sequence & Population
gnomAD v2:
12:106949987 G / A
gnomAD v3:
12:106556209 G / A
gnomAD v4:
chr12-106556209-G-A
Joint Max Group AF
0.58689089 (AFR)
Genomes Max Group AF
0.58689089 (AFR)
Linked Data - NCBI & NCI
dbSNP:
4964469
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.106556209G>A , CM000674.2:g.106556209G>A
GRCh38
NC_000012.11:g.106949987G>A , CM000674.1:g.106949987G>A
GRCh37
NC_000012.10:g.105474117G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_040246.1:n.143-48399C>T
Search 100 bp 5'
Search 100 bp 3'