Allele Registry

Canonical Allele Identifier: CA14937733

Gene: ZNRF3 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSN8869029 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr22:g.29054935A>G

GRCh37 chr22:g.29450923A>G

Linked Data - Sequence & Population

gnomAD v2:

22:29450923 A / G

gnomAD v3:

22:29054935 A / G

gnomAD v4:

chr22-29054935-A-G

Joint Max Group AF 0.46845687 (SAS)

Genomes Max Group AF 0.46845687 (SAS)

Exomes Max Group AF 0.28466471 (NFE)

Linked Data - NCBI & NCI

dbSNP:

2179129

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29054935A>G , CM000684.2:g.29054935A>G	GRCh38
NC_000022.10:g.29450923A>G , CM000684.1:g.29450923A>G	GRCh37
NC_000022.9:g.27780923A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000544604.7:c.*1313A>G MANE Select	ENSP00000443824.2:n.*1313A>G
ENST00000544604.6:c.*1313A>G	ENSP00000443824.2:n.*1313A>G
NM_001206998.1:c.4124A>G	NP_001193927.1:n.4124A>G
NM_032173.3:c.*1313A>G	NP_115549.2:n.*1313A>G
XM_005261773.2:c.*1313A>G	XP_005261830.1:n.*1313A>G
XM_011530434.1:c.*1313A>G	XP_011528736.1:n.*1313A>G
XM_011530435.1:c.*1313A>G	XP_011528737.1:n.*1313A>G
XM_011530436.1:c.*1313A>G	XP_011528738.1:n.*1313A>G
XM_011530437.1:c.*1313A>G	XP_011528739.1:n.*1313A>G
XM_011530438.1:c.*1313A>G	XP_011528740.1:n.*1313A>G
XM_011530439.1:c.*1313A>G	XP_011528741.1:n.*1313A>G
XM_011530440.1:c.*1313A>G	XP_011528742.1:n.*1313A>G
XM_011530441.1:c.*1313A>G	XP_011528743.1:n.*1313A>G
XM_011530435.2:c.*1313A>G	XP_011528737.1:n.*1313A>G
XM_011530436.3:c.*1313A>G	XP_011528738.1:n.*1313A>G
XM_011530438.2:c.*1313A>G	XP_011528740.1:n.*1313A>G
XM_017028990.1:c.*1313A>G	XP_016884479.1:n.*1313A>G
XM_024452286.1:c.*1313A>G	XP_024308054.1:n.*1313A>G
NM_001206998.2:c.*1313A>G MANE Select	NP_001193927.1:n.*1313A>G
NM_032173.4:c.*1313A>G	NP_115549.2:n.*1313A>G

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