ClinGen Allele Registry
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Canonical Allele Identifier:
CA15378777
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr5:g.66443611T>C
GRCh37
chr5:g.65739439T>C
Linked Data - Sequence & Population
gnomAD v2:
5:65739439 T / C
gnomAD v3:
5:66443611 T / C
gnomAD v4:
chr5-66443611-T-C
Joint Max Group AF
0.48797043 (AFR)
Genomes Max Group AF
0.48797043 (AFR)
Linked Data - NCBI & NCI
dbSNP:
10514995
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.66443611T>C , CM000667.2:g.66443611T>C
GRCh38
NC_000005.9:g.65739439T>C , CM000667.1:g.65739439T>C
GRCh37
NC_000005.8:g.65775195T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_948381.1:n.648+36567T>C
Search 100 bp 5'
Search 100 bp 3'