ClinGen Allele Registry
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Canonical Allele Identifier:
CA308490756
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr19:g.40991224T>C
GRCh37
chr19:g.41497129T>C
Linked Data - Sequence & Population
gnomAD v2:
19:41497129 T / C
gnomAD v3:
19:40991224 T / C
gnomAD v4:
chr19-40991224-T-C
Joint Max Group AF
0.02870828 (AFR)
Genomes Max Group AF
0.0280799 (AFR)
Exomes Max Group AF
0.02855595 (AFR)
Linked Data - NCBI & NCI
dbSNP:
34223104
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.40991224T>C , CM000681.2:g.40991224T>C
GRCh38
NC_000019.9:g.41497129T>C , CM000681.1:g.41497129T>C
GRCh37
NC_000019.8:g.46188969T>C
NCBI36
NG_007929.1:g.4926T>C
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