ClinGen Allele Registry
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Canonical Allele Identifier:
CA15088815
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.82846152C>T
GRCh37
chr1:g.83311835C>T
Linked Data - Sequence & Population
gnomAD v2:
1:83311835 C / T
gnomAD v3:
1:82846152 C / T
gnomAD v4:
chr1-82846152-C-T
Joint Max Group AF
0.28655251 (NFE)
Genomes Max Group AF
0.28655251 (NFE)
Linked Data - NCBI & NCI
dbSNP:
11163585
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.82846152C>T , CM000663.2:g.82846152C>T
GRCh38
NC_000001.10:g.83311835C>T , CM000663.1:g.83311835C>T
GRCh37
NC_000001.9:g.83084423C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_947534.1:n.67+7426G>A
Search 100 bp 5'
Search 100 bp 3'