Canonical Allele Identifier: CA396467588
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs769844369

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68823440G>C , CM000678.2:g.68823440G>C GRCh38
NC_000016.9:g.68857343G>C , CM000678.1:g.68857343G>C GRCh37
NC_000016.8:g.67414844G>C NCBI36
NG_008021.1:g.91149G>C , LRG_301:g.91149G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1978G>C MANE Select ENSP00000261769.4:p.Val660Leu
ENST00000261769.9:c.1978G>C ENSP00000261769.4:p.Val660Leu
ENST00000422392.6:c.1795G>C ENSP00000414946.2:p.Val599Leu
ENST00000562118.1:n.196G>C
ENST00000562836.5:n.2049G>C
ENST00000566510.5:c.*644G>C ENSP00000458139.1:n.*644G>C
ENST00000566612.5:c.*218G>C ENSP00000454782.1:n.*218G>C
ENST00000611625.4:c.2041G>C ENSP00000481063.1:p.Val681Leu
ENST00000612417.4:c.1830+1321G>C ENSP00000478360.1:n.1830+1321G>C
ENST00000621016.4:c.1865+1286G>C ENSP00000480664.1:n.1865+1286G>C
NM_004360.3:c.1978G>C , LRG_301t1:c.1978G>C NP_004351.1:p.Val660Leu
XM_011523488.1:c.1243G>C XP_011521790.1:p.Val415Leu
XM_011523489.1:c.1243G>C XP_011521791.1:p.Val415Leu
NM_001317184.1:c.1795G>C NP_001304113.1:p.Val599Leu
NM_001317185.1:c.430G>C NP_001304114.1:p.Val144Leu
NM_001317186.1:c.13G>C NP_001304115.1:p.Val5Leu
NM_004360.4:c.1978G>C NP_004351.1:p.Val660Leu
NM_004360.5:c.1978G>C MANE Select NP_004351.1:p.Val660Leu
NM_001317184.2:c.1795G>C NP_001304113.1:p.Val599Leu
NM_001317185.2:c.430G>C NP_001304114.1:p.Val144Leu
NM_001317186.2:c.13G>C NP_001304115.1:p.Val5Leu