ClinGen Allele Registry
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Canonical Allele Identifier:
CA301530157
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr18:g.60373372T>A
GRCh37
chr18:g.58040605T>A
Linked Data - Sequence & Population
gnomAD v3:
18:60373372 T / A
gnomAD v4:
chr18-60373372-T-A
Joint Max Group AF
0.000008 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Linked Data - NCBI & NCI
dbSNP:
901225761
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60373372T>A , CM000680.2:g.60373372T>A
GRCh38
NC_000018.9:g.58040605T>A , CM000680.1:g.58040605T>A
GRCh37
NC_000018.8:g.56191585T>A
NCBI36
NG_016441.1:g.4397A>T
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