ClinGen Allele Registry
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Canonical Allele Identifier:
CA12404808
Gene:
Linked Data
dbSNP Id:
rs11153730
gnomAD v2:
6-118667522-T-C
gnomAD v3:
6-118346359-T-C
gnomAD v4:
6-118346359-T-C
MyVariant Identifiers:
chr6:g.118667522T>C (hg19)
chr6:g.118346359T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.118346359T>C , CM000668.2:g.118346359T>C
GRCh38
NC_000006.11:g.118667522T>C , CM000668.1:g.118667522T>C
GRCh37
NC_000006.10:g.118774215T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_942915.1:n.189-10261A>G
Search 100 bp 5'
Search 100 bp 3'