Canonical Allele Identifier: CA14923541
Gene: ZNRF3 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.28800769G>C
GRCh37 chr22:g.29196757G>C
gnomAD v2:
22:29196757 G / C
gnomAD v3:
22:28800769 G / C
gnomAD v4:
chr22-28800769-G-C
Joint Max Group AF 0.67157288 (EAS)
Genomes Max Group AF 0.65807899 (EAS)
Exomes Max Group AF 0.6713591 (EAS)
ClinVar RCV:
RCV000012978
ClinVar Variation:
12195
dbSNP:
2269577
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28800769G>C , CM000684.2:g.28800769G>C GRCh38
NC_000022.10:g.29196757G>C , CM000684.1:g.29196757G>C GRCh37
NC_000022.9:g.27526757G>C NCBI36
NG_012266.1:g.4804C>G

Transcript Alleles

HGVS Amino-acid Change
XM_011530435.1:c.-194+32G>C XP_011528737.1:n.-194+32G>C
XM_011530436.1:c.-262+32G>C XP_011528738.1:n.-262+32G>C
XM_011530435.2:c.-194+32G>C XP_011528737.1:n.-194+32G>C
XM_011530436.3:c.-262+32G>C XP_011528738.1:n.-262+32G>C
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