ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA12203058
Gene:
Linked Data
dbSNP Id:
rs9386463
gnomAD v2:
6-106094057-A-G
gnomAD v3:
6-105646182-A-G
gnomAD v4:
6-105646182-A-G
MyVariant Identifiers:
chr6:g.106094057A>G (hg19)
chr6:g.105646182A>G (hg38)
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'