Canonical Allele Identifier: CA163869
Gene: CDH1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.68828263G>A
GRCh37 chr16:g.68862166G>A
Revel Score:
ENST00000261769 (MANE Select) 0.228
ENST00000379120 0.228
ENST00000422392 0.228
gnomAD v2:
16:68862166 G / A
gnomAD v3:
16:68828263 G / A
gnomAD v4:
chr16-68828263-G-A
Joint Max Group AF 0.00009199 (AFR)
Genomes Max Group AF 0.00003242 (AFR)
Exomes Max Group AF 0.00011826 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68828263G>A , CM000678.2:g.68828263G>A GRCh38
NC_000016.9:g.68862166G>A , CM000678.1:g.68862166G>A GRCh37
NC_000016.8:g.67419667G>A NCBI36
NG_008021.1:g.95972G>A , LRG_301:g.95972G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2254G>A MANE Select ENSP00000261769.4:p.Val752Ile
ENST00000261769.9:c.2254G>A ENSP00000261769.4:p.Val752Ile
ENST00000422392.6:c.2071G>A ENSP00000414946.2:p.Val691Ile
ENST00000562118.1:n.472G>A
ENST00000562836.5:n.2325G>A
ENST00000566510.5:c.*920G>A ENSP00000458139.1:n.*920G>A
ENST00000566612.5:c.*494G>A ENSP00000454782.1:n.*494G>A
ENST00000611625.4:c.2317G>A ENSP00000481063.1:p.Val773Ile
ENST00000612417.4:c.1853+1709G>A ENSP00000478360.1:n.1853+1709G>A
ENST00000621016.4:c.1866-5940G>A ENSP00000480664.1:n.1866-5940G>A
NM_004360.3:c.2254G>A , LRG_301t1:c.2254G>A NP_004351.1:p.Val752Ile
XM_011523488.1:c.1519G>A XP_011521790.1:p.Val507Ile
XM_011523489.1:c.1519G>A XP_011521791.1:p.Val507Ile
NM_001317184.1:c.2071G>A NP_001304113.1:p.Val691Ile
NM_001317185.1:c.706G>A NP_001304114.1:p.Val236Ile
NM_001317186.1:c.289G>A NP_001304115.1:p.Val97Ile
NM_004360.4:c.2254G>A NP_004351.1:p.Val752Ile
NM_004360.5:c.2254G>A MANE Select NP_004351.1:p.Val752Ile
NM_001317184.2:c.2071G>A NP_001304113.1:p.Val691Ile
NM_001317185.2:c.706G>A NP_001304114.1:p.Val236Ile
NM_001317186.2:c.289G>A NP_001304115.1:p.Val97Ile
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