Canonical Allele Identifier: CA396471112
Gene: CDH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829735A>C , CM000678.2:g.68829735A>C GRCh38
NC_000016.9:g.68863638A>C , CM000678.1:g.68863638A>C GRCh37
NC_000016.8:g.67421139A>C NCBI36
NG_008021.1:g.97444A>C , LRG_301:g.97444A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2377A>C MANE Select ENSP00000261769.4:p.Ser793Arg
ENST00000261769.9:c.2377A>C ENSP00000261769.4:p.Ser793Arg
ENST00000422392.6:c.2194A>C ENSP00000414946.2:p.Ser732Arg
ENST00000562118.1:n.595A>C
ENST00000562836.5:n.2448A>C
ENST00000566510.5:c.*1043A>C ENSP00000458139.1:n.*1043A>C
ENST00000566612.5:c.*617A>C ENSP00000454782.1:n.*617A>C
ENST00000611625.4:c.2440A>C ENSP00000481063.1:p.Ser814Arg
ENST00000612417.4:c.1853+3181A>C ENSP00000478360.1:n.1853+3181A>C
ENST00000621016.4:c.1866-4468A>C ENSP00000480664.1:n.1866-4468A>C
NM_004360.3:c.2377A>C , LRG_301t1:c.2377A>C NP_004351.1:p.Ser793Arg
XM_011523488.1:c.1642A>C XP_011521790.1:p.Ser548Arg
XM_011523489.1:c.1642A>C XP_011521791.1:p.Ser548Arg
NM_001317184.1:c.2194A>C NP_001304113.1:p.Ser732Arg
NM_001317185.1:c.829A>C NP_001304114.1:p.Ser277Arg
NM_001317186.1:c.412A>C NP_001304115.1:p.Ser138Arg
NM_004360.4:c.2377A>C NP_004351.1:p.Ser793Arg
NM_004360.5:c.2377A>C MANE Select NP_004351.1:p.Ser793Arg
NM_001317184.2:c.2194A>C NP_001304113.1:p.Ser732Arg
NM_001317185.2:c.829A>C NP_001304114.1:p.Ser277Arg
NM_001317186.2:c.412A>C NP_001304115.1:p.Ser138Arg