ClinGen Allele Registry
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Canonical Allele Identifier:
CA16061061
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.94586920G>T
GRCh37
chr1:g.95052476G>T
Linked Data - Sequence & Population
gnomAD v2:
1:95052476 G / T
gnomAD v3:
1:94586920 G / T
gnomAD v4:
chr1-94586920-G-T
Joint Max Group AF
0.2910699 (NFE)
Genomes Max Group AF
0.2910699 (NFE)
Linked Data - NCBI & NCI
dbSNP:
2022309
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.94586920G>T , CM000663.2:g.94586920G>T
GRCh38
NC_000001.10:g.95052476G>T , CM000663.1:g.95052476G>T
GRCh37
NC_000001.9:g.94825064G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001738161.1:n.461+23307G>T
Search 100 bp 5'
Search 100 bp 3'