ClinGen Allele Registry
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Canonical Allele Identifier:
CA10774012
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.76011522A>C
GRCh37
chr1:g.76477207A>C
Linked Data - Sequence & Population
gnomAD v2:
1:76477207 A / C
gnomAD v3:
1:76011522 A / C
gnomAD v4:
chr1-76011522-A-C
Joint Max Group AF
0.20721175 (SAS)
Genomes Max Group AF
0.20721175 (SAS)
Linked Data - NCBI & NCI
dbSNP:
12122440
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.76011522A>C , CM000663.2:g.76011522A>C
GRCh38
NC_000001.10:g.76477207A>C , CM000663.1:g.76477207A>C
GRCh37
NC_000001.9:g.76249795A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_125939.1:n.75+124A>C
Search 100 bp 5'
Search 100 bp 3'