ClinGen Allele Registry
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Canonical Allele Identifier:
CA12374494
Gene:
Linked Data - Expert Curation
COSMIC:
COSN14895099 (not active)
COSN14947012 (not active)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.98124244T>C
GRCh37
chr6:g.98572120T>C
Linked Data - Sequence & Population
gnomAD v2:
6:98572120 T / C
gnomAD v3:
6:98124244 T / C
gnomAD v4:
chr6-98124244-T-C
Joint Max Group AF
0.51123019 (NFE)
Genomes Max Group AF
0.51123019 (NFE)
Linked Data - NCBI & NCI
dbSNP:
10457441
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.98124244T>C , CM000668.2:g.98124244T>C
GRCh38
NC_000006.11:g.98572120T>C , CM000668.1:g.98572120T>C
GRCh37
NC_000006.10:g.98678841T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_942809.1:n.456+24974T>C
Search 100 bp 5'
Search 100 bp 3'