ClinGen Allele Registry
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Canonical Allele Identifier:
CA530182842
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.240682824G>T
GRCh37
chr1:g.240846124G>T
Linked Data - Sequence & Population
gnomAD v2:
1:240846124 G / T
gnomAD v3:
1:240682824 G / T
gnomAD v4:
chr1-240682824-G-T
Joint Max Group AF
0.0002836 (SAS)
Genomes Max Group AF
0.0002836 (SAS)
Linked Data - NCBI & NCI
dbSNP:
4659996
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.240682824G>T , CM000663.2:g.240682824G>T
GRCh38
NC_000001.10:g.240846124G>T , CM000663.1:g.240846124G>T
GRCh37
NC_000001.9:g.238912747G>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'