ClinGen Allele Registry
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Canonical Allele Identifier:
CA14677340
Gene: C5AR1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr19:g.47293543A>G
GRCh37
chr19:g.47796800A>G
Linked Data - Sequence & Population
gnomAD v2:
19:47796800 A / G
gnomAD v3:
19:47293543 A / G
gnomAD v4:
chr19-47293543-A-G
Joint Max Group AF
0.49438036 (SAS)
Genomes Max Group AF
0.49438036 (SAS)
Linked Data - NCBI & NCI
dbSNP:
7254232
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.47293543A>G , CM000681.2:g.47293543A>G
GRCh38
NC_000019.9:g.47796800A>G , CM000681.1:g.47796800A>G
GRCh37
NC_000019.8:g.52488640A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000595501.5:n.235+1370A>G
Search 100 bp 5'
Search 100 bp 3'