ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA12203058
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.105646182A>G
GRCh37
chr6:g.106094057A>G
Linked Data - Sequence & Population
gnomAD v2:
6:106094057 A / G
gnomAD v3:
6:105646182 A / G
gnomAD v4:
chr6-105646182-A-G
Joint Max Group AF
0.57562371 (AMR)
Genomes Max Group AF
0.57562371 (AMR)
Linked Data - NCBI & NCI
dbSNP:
9386463
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.105646182A>G , CM000668.2:g.105646182A>G
GRCh38
NC_000006.11:g.106094057A>G , CM000668.1:g.106094057A>G
GRCh37
NC_000006.10:g.106200750A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_942835.1:n.625-9037T>C
Search 100 bp 5'
Search 100 bp 3'