Canonical Allele Identifier: CA157960
Gene: CDH1 HGNC NCBI
COSMIC:
COSM471991
MyVariant.info:
GRCh38 chr16:g.68828255G>A
GRCh37 chr16:g.68862158G>A
Revel Score:
ENST00000261769 (MANE Select) 0.696
ENST00000379120 0.696
ENST00000422392 0.696
gnomAD v2:
16:68862158 G / A
gnomAD v3:
16:68828255 G / A
gnomAD v4:
chr16-68828255-G-A
Joint Max Group AF 0.00001533 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00001213 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68828255G>A , CM000678.2:g.68828255G>A GRCh38
NC_000016.9:g.68862158G>A , CM000678.1:g.68862158G>A GRCh37
NC_000016.8:g.67419659G>A NCBI36
NG_008021.1:g.95964G>A , LRG_301:g.95964G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2246G>A MANE Select ENSP00000261769.4:p.Arg749Gln
ENST00000261769.9:c.2246G>A ENSP00000261769.4:p.Arg749Gln
ENST00000422392.6:c.2063G>A ENSP00000414946.2:p.Arg688Gln
ENST00000562118.1:n.464G>A
ENST00000562836.5:n.2317G>A
ENST00000566510.5:c.*912G>A ENSP00000458139.1:n.*912G>A
ENST00000566612.5:c.*486G>A ENSP00000454782.1:n.*486G>A
ENST00000611625.4:c.2309G>A ENSP00000481063.1:p.Arg770Gln
ENST00000612417.4:c.1853+1701G>A ENSP00000478360.1:n.1853+1701G>A
ENST00000621016.4:c.1866-5948G>A ENSP00000480664.1:n.1866-5948G>A
NM_004360.3:c.2246G>A , LRG_301t1:c.2246G>A NP_004351.1:p.Arg749Gln
XM_011523488.1:c.1511G>A XP_011521790.1:p.Arg504Gln
XM_011523489.1:c.1511G>A XP_011521791.1:p.Arg504Gln
NM_001317184.1:c.2063G>A NP_001304113.1:p.Arg688Gln
NM_001317185.1:c.698G>A NP_001304114.1:p.Arg233Gln
NM_001317186.1:c.281G>A NP_001304115.1:p.Arg94Gln
NM_004360.4:c.2246G>A NP_004351.1:p.Arg749Gln
NM_004360.5:c.2246G>A MANE Select NP_004351.1:p.Arg749Gln
NM_001317184.2:c.2063G>A NP_001304113.1:p.Arg688Gln
NM_001317185.2:c.698G>A NP_001304114.1:p.Arg233Gln
NM_001317186.2:c.281G>A NP_001304115.1:p.Arg94Gln
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