Canonical Allele Identifier: CA396472166
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1792154
ClinVar RCV Id: RCV002431022
gnomAD v4: 16-68833348-T-C
MyVariant Identifiers: chr16:g.68867251T>C (hg19) chr16:g.68833348T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833348T>C , CM000678.2:g.68833348T>C GRCh38
NC_000016.9:g.68867251T>C , CM000678.1:g.68867251T>C GRCh37
NC_000016.8:g.67424752T>C NCBI36
NG_008021.1:g.101057T>C , LRG_301:g.101057T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2498T>C MANE Select ENSP00000261769.4:p.Phe833Ser
ENST00000261769.9:c.2498T>C ENSP00000261769.4:p.Phe833Ser
ENST00000422392.6:c.2315T>C ENSP00000414946.2:p.Phe772Ser
ENST00000562118.1:n.716T>C
ENST00000562836.5:n.2569T>C
ENST00000566510.5:c.*1164T>C ENSP00000458139.1:n.*1164T>C
ENST00000566612.5:c.*738T>C ENSP00000454782.1:n.*738T>C
ENST00000611625.4:c.2561T>C ENSP00000481063.1:p.Phe854Ser
ENST00000612417.4:c.1854-843T>C ENSP00000478360.1:n.1854-843T>C
ENST00000621016.4:c.1866-855T>C ENSP00000480664.1:n.1866-855T>C
NM_004360.3:c.2498T>C , LRG_301t1:c.2498T>C NP_004351.1:p.Phe833Ser
XM_011523488.1:c.1763T>C XP_011521790.1:p.Phe588Ser
XM_011523489.1:c.1763T>C XP_011521791.1:p.Phe588Ser
NM_001317184.1:c.2315T>C NP_001304113.1:p.Phe772Ser
NM_001317185.1:c.950T>C NP_001304114.1:p.Phe317Ser
NM_001317186.1:c.533T>C NP_001304115.1:p.Phe178Ser
NM_004360.4:c.2498T>C NP_004351.1:p.Phe833Ser
NM_004360.5:c.2498T>C MANE Select NP_004351.1:p.Phe833Ser
NM_001317184.2:c.2315T>C NP_001304113.1:p.Phe772Ser
NM_001317185.2:c.950T>C NP_001304114.1:p.Phe317Ser
NM_001317186.2:c.533T>C NP_001304115.1:p.Phe178Ser
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