Canonical Allele Identifier: CA336541
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216594
ClinVar RCV Id: RCV000196588 RCV002426951
dbSNP Id: rs863224728
gnomAD v4: 16-68833347-T-C
MyVariant Identifiers: chr16:g.68867250T>C (hg19) chr16:g.68833347T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833347T>C , CM000678.2:g.68833347T>C GRCh38
NC_000016.9:g.68867250T>C , CM000678.1:g.68867250T>C GRCh37
NC_000016.8:g.67424751T>C NCBI36
NG_008021.1:g.101056T>C , LRG_301:g.101056T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2497T>C MANE Select ENSP00000261769.4:p.Phe833Leu
ENST00000261769.9:c.2497T>C ENSP00000261769.4:p.Phe833Leu
ENST00000422392.6:c.2314T>C ENSP00000414946.2:p.Phe772Leu
ENST00000562118.1:n.715T>C
ENST00000562836.5:n.2568T>C
ENST00000566510.5:c.*1163T>C ENSP00000458139.1:n.*1163T>C
ENST00000566612.5:c.*737T>C ENSP00000454782.1:n.*737T>C
ENST00000611625.4:c.2560T>C ENSP00000481063.1:p.Phe854Leu
ENST00000612417.4:c.1854-844T>C ENSP00000478360.1:n.1854-844T>C
ENST00000621016.4:c.1866-856T>C ENSP00000480664.1:n.1866-856T>C
NM_004360.3:c.2497T>C , LRG_301t1:c.2497T>C NP_004351.1:p.Phe833Leu
XM_011523488.1:c.1762T>C XP_011521790.1:p.Phe588Leu
XM_011523489.1:c.1762T>C XP_011521791.1:p.Phe588Leu
NM_001317184.1:c.2314T>C NP_001304113.1:p.Phe772Leu
NM_001317185.1:c.949T>C NP_001304114.1:p.Phe317Leu
NM_001317186.1:c.532T>C NP_001304115.1:p.Phe178Leu
NM_004360.4:c.2497T>C NP_004351.1:p.Phe833Leu
NM_004360.5:c.2497T>C MANE Select NP_004351.1:p.Phe833Leu
NM_001317184.2:c.2314T>C NP_001304113.1:p.Phe772Leu
NM_001317185.2:c.949T>C NP_001304114.1:p.Phe317Leu
NM_001317186.2:c.532T>C NP_001304115.1:p.Phe178Leu
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