Canonical Allele Identifier: CA396471160
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs587782549

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829745G>C , CM000678.2:g.68829745G>C GRCh38
NC_000016.9:g.68863648G>C , CM000678.1:g.68863648G>C GRCh37
NC_000016.8:g.67421149G>C NCBI36
NG_008021.1:g.97454G>C , LRG_301:g.97454G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2387G>C MANE Select ENSP00000261769.4:p.Arg796Pro
ENST00000261769.9:c.2387G>C ENSP00000261769.4:p.Arg796Pro
ENST00000422392.6:c.2204G>C ENSP00000414946.2:p.Arg735Pro
ENST00000562118.1:n.605G>C
ENST00000562836.5:n.2458G>C
ENST00000566510.5:c.*1053G>C ENSP00000458139.1:n.*1053G>C
ENST00000566612.5:c.*627G>C ENSP00000454782.1:n.*627G>C
ENST00000611625.4:c.2450G>C ENSP00000481063.1:p.Arg817Pro
ENST00000612417.4:c.1853+3191G>C ENSP00000478360.1:n.1853+3191G>C
ENST00000621016.4:c.1866-4458G>C ENSP00000480664.1:n.1866-4458G>C
NM_004360.3:c.2387G>C , LRG_301t1:c.2387G>C NP_004351.1:p.Arg796Pro
XM_011523488.1:c.1652G>C XP_011521790.1:p.Arg551Pro
XM_011523489.1:c.1652G>C XP_011521791.1:p.Arg551Pro
NM_001317184.1:c.2204G>C NP_001304113.1:p.Arg735Pro
NM_001317185.1:c.839G>C NP_001304114.1:p.Arg280Pro
NM_001317186.1:c.422G>C NP_001304115.1:p.Arg141Pro
NM_004360.4:c.2387G>C NP_004351.1:p.Arg796Pro
NM_004360.5:c.2387G>C MANE Select NP_004351.1:p.Arg796Pro
NM_001317184.2:c.2204G>C NP_001304113.1:p.Arg735Pro
NM_001317185.2:c.839G>C NP_001304114.1:p.Arg280Pro
NM_001317186.2:c.422G>C NP_001304115.1:p.Arg141Pro