ClinGen Allele Registry
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Canonical Allele Identifier:
CA10857392
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr1:g.213424498T>C
GRCh37
chr1:g.213597841T>C
Linked Data - Sequence & Population
gnomAD v2:
1:213597841 T / C
gnomAD v3:
1:213424498 T / C
gnomAD v4:
chr1-213424498-T-C
Joint Max Group AF
0.76259675 (NFE)
Genomes Max Group AF
0.76259675 (NFE)
Linked Data - NCBI & NCI
dbSNP:
320461
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.213424498T>C , CM000663.2:g.213424498T>C
GRCh38
NC_000001.10:g.213597841T>C , CM000663.1:g.213597841T>C
GRCh37
NC_000001.9:g.211664464T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001738463.1:n.260+24189T>C
Search 100 bp 5'
Search 100 bp 3'