Canonical Allele Identifier: CA4455645
Gene: WNT16 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.121329732C>A
GRCh37 chr7:g.120969786C>A
Revel Score:
ENST00000361301 0.380
ENST00000222462 (MANE Select) 0.380
ENST00000414945 0.380
gnomAD v2:
7:120969786 C / A
gnomAD v3:
7:121329732 C / A
gnomAD v4:
chr7-121329732-C-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.121329732C>A , CM000669.2:g.121329732C>A GRCh38
NC_000007.13:g.120969786C>A , CM000669.1:g.120969786C>A GRCh37
NC_000007.12:g.120757022C>A NCBI36
NG_029242.1:g.9366C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222462.3:c.261C>A MANE Select ENSP00000222462.2:p.His87Gln
ENST00000222462.2:c.261C>A ENSP00000222462.2:p.His87Gln
ENST00000361301.6:c.231C>A ENSP00000355065.2:p.His77Gln
NM_016087.2:c.231C>A NP_057171.2:p.His77Gln
NM_057168.1:c.261C>A NP_476509.1:p.His87Gln
NM_057168.2:c.261C>A MANE Select NP_476509.1:p.His87Gln
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