Canonical Allele Identifier: CA396472461
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 942214
ClinVar RCV Id: RCV001212155 RCV003284055
dbSNP Id: rs1961541103
MyVariant Identifiers: chr16:g.68867314A>C (hg19) chr16:g.68833411A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833411A>C , CM000678.2:g.68833411A>C GRCh38
NC_000016.9:g.68867314A>C , CM000678.1:g.68867314A>C GRCh37
NC_000016.8:g.67424815A>C NCBI36
NG_008021.1:g.101120A>C , LRG_301:g.101120A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2561A>C MANE Select ENSP00000261769.4:p.Asp854Ala
ENST00000261769.9:c.2561A>C ENSP00000261769.4:p.Asp854Ala
ENST00000422392.6:c.2378A>C ENSP00000414946.2:p.Asp793Ala
ENST00000562118.1:n.779A>C
ENST00000562836.5:n.2632A>C
ENST00000566510.5:c.*1227A>C ENSP00000458139.1:n.*1227A>C
ENST00000566612.5:c.*801A>C ENSP00000454782.1:n.*801A>C
ENST00000611625.4:c.2624A>C ENSP00000481063.1:p.Asp875Ala
ENST00000612417.4:c.1854-780A>C ENSP00000478360.1:n.1854-780A>C
ENST00000621016.4:c.1866-792A>C ENSP00000480664.1:n.1866-792A>C
NM_004360.3:c.2561A>C , LRG_301t1:c.2561A>C NP_004351.1:p.Asp854Ala
XM_011523488.1:c.1826A>C XP_011521790.1:p.Asp609Ala
XM_011523489.1:c.1826A>C XP_011521791.1:p.Asp609Ala
NM_001317184.1:c.2378A>C NP_001304113.1:p.Asp793Ala
NM_001317185.1:c.1013A>C NP_001304114.1:p.Asp338Ala
NM_001317186.1:c.596A>C NP_001304115.1:p.Asp199Ala
NM_004360.4:c.2561A>C NP_004351.1:p.Asp854Ala
NM_004360.5:c.2561A>C MANE Select NP_004351.1:p.Asp854Ala
NM_001317184.2:c.2378A>C NP_001304113.1:p.Asp793Ala
NM_001317185.2:c.1013A>C NP_001304114.1:p.Asp338Ala
NM_001317186.2:c.596A>C NP_001304115.1:p.Asp199Ala
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