ClinGen Allele Registry
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Canonical Allele Identifier:
CA180418669
Gene:
Linked Data
dbSNP Id:
rs142450813
gnomAD v2:
8-80103285-T-C
gnomAD v3:
8-79191050-T-C
gnomAD v4:
8-79191050-T-C
MyVariant Identifiers:
chr8:g.80103285T>C (hg19)
chr8:g.79191050T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.79191050T>C , CM000670.2:g.79191050T>C
GRCh38
NC_000008.10:g.80103285T>C , CM000670.1:g.80103285T>C
GRCh37
NC_000008.9:g.80265840T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745720.1:n.105+679T>C
Search 100 bp 5'
Search 100 bp 3'