Canonical Allele Identifier: CA165250
Gene: CDH1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.68822219G>A
GRCh37 chr16:g.68856122G>A
Revel Score:
ENST00000261769 (MANE Select) 0.117
ENST00000379120 0.117
ENST00000422392 0.117
gnomAD v2:
16:68856122 G / A
gnomAD v3:
16:68822219 G / A
gnomAD v4:
chr16-68822219-G-A
Joint Max Group AF 0.00001747 (AFR)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.0000099 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822219G>A , CM000678.2:g.68822219G>A GRCh38
NC_000016.9:g.68856122G>A , CM000678.1:g.68856122G>A GRCh37
NC_000016.8:g.67413623G>A NCBI36
NG_008021.1:g.89928G>A , LRG_301:g.89928G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1930G>A MANE Select ENSP00000261769.4:p.Asp644Asn
ENST00000261769.9:c.1930G>A ENSP00000261769.4:p.Asp644Asn
ENST00000422392.6:c.1747G>A ENSP00000414946.2:p.Asp583Asn
ENST00000562836.5:n.2001G>A
ENST00000566510.5:c.*596G>A ENSP00000458139.1:n.*596G>A
ENST00000566612.5:c.*170G>A ENSP00000454782.1:n.*170G>A
ENST00000611625.4:c.1993G>A ENSP00000481063.1:p.Asp665Asn
ENST00000612417.4:c.1830+100G>A ENSP00000478360.1:n.1830+100G>A
ENST00000621016.4:c.1865+65G>A ENSP00000480664.1:n.1865+65G>A
NM_004360.3:c.1930G>A , LRG_301t1:c.1930G>A NP_004351.1:p.Asp644Asn
XM_011523488.1:c.1195G>A XP_011521790.1:p.Asp399Asn
XM_011523489.1:c.1195G>A XP_011521791.1:p.Asp399Asn
NM_001317184.1:c.1747G>A NP_001304113.1:p.Asp583Asn
NM_001317185.1:c.382G>A NP_001304114.1:p.Asp128Asn
NM_001317186.1:c.-36G>A NP_001304115.1:n.-36G>A
NM_004360.4:c.1930G>A NP_004351.1:p.Asp644Asn
NM_004360.5:c.1930G>A MANE Select NP_004351.1:p.Asp644Asn
NM_001317184.2:c.1747G>A NP_001304113.1:p.Asp583Asn
NM_001317185.2:c.382G>A NP_001304114.1:p.Asp128Asn
NM_001317186.2:c.-36G>A NP_001304115.1:n.-36G>A
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