Canonical Allele Identifier: CA396467571
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs1961225323

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68823431G>C , CM000678.2:g.68823431G>C GRCh38
NC_000016.9:g.68857334G>C , CM000678.1:g.68857334G>C GRCh37
NC_000016.8:g.67414835G>C NCBI36
NG_008021.1:g.91140G>C , LRG_301:g.91140G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1969G>C MANE Select ENSP00000261769.4:p.Ala657Pro
ENST00000261769.9:c.1969G>C ENSP00000261769.4:p.Ala657Pro
ENST00000422392.6:c.1786G>C ENSP00000414946.2:p.Ala596Pro
ENST00000562118.1:n.187G>C
ENST00000562836.5:n.2040G>C
ENST00000566510.5:c.*635G>C ENSP00000458139.1:n.*635G>C
ENST00000566612.5:c.*209G>C ENSP00000454782.1:n.*209G>C
ENST00000611625.4:c.2032G>C ENSP00000481063.1:p.Ala678Pro
ENST00000612417.4:c.1830+1312G>C ENSP00000478360.1:n.1830+1312G>C
ENST00000621016.4:c.1865+1277G>C ENSP00000480664.1:n.1865+1277G>C
NM_004360.3:c.1969G>C , LRG_301t1:c.1969G>C NP_004351.1:p.Ala657Pro
XM_011523488.1:c.1234G>C XP_011521790.1:p.Ala412Pro
XM_011523489.1:c.1234G>C XP_011521791.1:p.Ala412Pro
NM_001317184.1:c.1786G>C NP_001304113.1:p.Ala596Pro
NM_001317185.1:c.421G>C NP_001304114.1:p.Ala141Pro
NM_001317186.1:c.4G>C NP_001304115.1:p.Ala2Pro
NM_004360.4:c.1969G>C NP_004351.1:p.Ala657Pro
NM_004360.5:c.1969G>C MANE Select NP_004351.1:p.Ala657Pro
NM_001317184.2:c.1786G>C NP_001304113.1:p.Ala596Pro
NM_001317185.2:c.421G>C NP_001304114.1:p.Ala141Pro
NM_001317186.2:c.4G>C NP_001304115.1:p.Ala2Pro