Canonical Allele Identifier: CA411901516
Gene: WNT7B HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.45931106C>T
GRCh37 chr22:g.46326986C>T
Revel Score:
ENST00000339464 (MANE Select) 0.931
ENST00000410089 0.931
ENST00000409496 0.931
ENST00000410058 0.931
gnomAD v2:
22:46326986 C / T
gnomAD v3:
22:45931106 C / T
gnomAD v4:
chr22-45931106-C-T
Joint Max Group AF 0.00000365 (NFE)
Exomes Max Group AF 0.00000387 (NFE)
ClinVar Allele:
1289409
ClinVar RCV:
RCV001728160
ClinVar Variation:
1299462
dbSNP:
1158594747
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45931106C>T , CM000684.2:g.45931106C>T GRCh38
NC_000022.10:g.46326986C>T , CM000684.1:g.46326986C>T GRCh37
NC_000022.9:g.44705650C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000339464.9:c.562G>A MANE Select ENSP00000341032.4:p.Gly188Ser
ENST00000339464.8:c.562G>A ENSP00000341032.4:p.Gly188Ser
ENST00000409496.7:c.574G>A ENSP00000386546.3:p.Gly192Ser
ENST00000410058.1:c.562G>A ENSP00000387217.1:p.Gly188Ser
ENST00000410089.5:c.514G>A ENSP00000386781.1:p.Gly172Ser
NM_058238.2:c.562G>A NP_478679.1:p.Gly188Ser
XM_011530366.1:c.574G>A XP_011528668.1:p.Gly192Ser
NM_058238.3:c.562G>A MANE Select NP_478679.1:p.Gly188Ser
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