Canonical Allele Identifier: CA127316
Gene: CDH3 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.68685288G>A
GRCh37 chr16:g.68719191G>A
Revel Score:
ENST00000429102 0.624
ENST00000264012 (MANE Select) 0.624
ENST00000542274 0.624
gnomAD v2:
16:68719191 G / A
gnomAD v3:
16:68685288 G / A
gnomAD v4:
chr16-68685288-G-A
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV000019206
RCV001386870
ClinVar Variation:
17639
dbSNP:
121434542
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68685288G>A , CM000678.2:g.68685288G>A GRCh38
NC_000016.9:g.68719191G>A , CM000678.1:g.68719191G>A GRCh37
NC_000016.8:g.67276692G>A NCBI36
NG_009096.1:g.46041G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264012.9:c.1508G>A MANE Select ENSP00000264012.4:p.Arg503His
ENST00000264012.8:c.1508G>A ENSP00000264012.4:p.Arg503His
ENST00000429102.6:c.1508G>A ENSP00000398485.2:p.Arg503His
ENST00000542274.5:c.*1246G>A ENSP00000464021.1:n.*1246G>A
NM_001793.4:c.1508G>A NP_001784.2:p.Arg503His
XM_011522800.1:c.1508G>A XP_011521102.1:p.Arg503His
NM_001317195.1:c.1508G>A NP_001304124.1:p.Arg503His
NM_001317196.1:c.1343G>A NP_001304125.1:p.Arg448His
NM_001793.5:c.1508G>A NP_001784.2:p.Arg503His
XM_011522800.3:c.1508G>A XP_011521102.1:p.Arg503His
NM_001793.6:c.1508G>A MANE Select NP_001784.2:p.Arg503His
NM_001317195.2:c.1508G>A NP_001304124.1:p.Arg503His
NM_001317196.2:c.1343G>A NP_001304125.1:p.Arg448His
NM_001317195.3:c.1508G>A NP_001304124.1:p.Arg503His
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