Canonical Allele Identifier: CA396467822
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs2152139534

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68823548A>T , CM000678.2:g.68823548A>T GRCh38
NC_000016.9:g.68857451A>T , CM000678.1:g.68857451A>T GRCh37
NC_000016.8:g.67414952A>T NCBI36
NG_008021.1:g.91257A>T , LRG_301:g.91257A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.2086A>T MANE Select ENSP00000261769.4:p.Arg696Trp
ENST00000261769.9:c.2086A>T ENSP00000261769.4:p.Arg696Trp
ENST00000422392.6:c.1903A>T ENSP00000414946.2:p.Arg635Trp
ENST00000562118.1:n.304A>T
ENST00000562836.5:n.2157A>T
ENST00000566510.5:c.*752A>T ENSP00000458139.1:n.*752A>T
ENST00000566612.5:c.*326A>T ENSP00000454782.1:n.*326A>T
ENST00000611625.4:c.2149A>T ENSP00000481063.1:p.Arg717Trp
ENST00000612417.4:c.1830+1429A>T ENSP00000478360.1:n.1830+1429A>T
ENST00000621016.4:c.1865+1394A>T ENSP00000480664.1:n.1865+1394A>T
NM_004360.3:c.2086A>T , LRG_301t1:c.2086A>T NP_004351.1:p.Arg696Trp
XM_011523488.1:c.1351A>T XP_011521790.1:p.Arg451Trp
XM_011523489.1:c.1351A>T XP_011521791.1:p.Arg451Trp
NM_001317184.1:c.1903A>T NP_001304113.1:p.Arg635Trp
NM_001317185.1:c.538A>T NP_001304114.1:p.Arg180Trp
NM_001317186.1:c.121A>T NP_001304115.1:p.Arg41Trp
NM_004360.4:c.2086A>T NP_004351.1:p.Arg696Trp
NM_004360.5:c.2086A>T MANE Select NP_004351.1:p.Arg696Trp
NM_001317184.2:c.1903A>T NP_001304113.1:p.Arg635Trp
NM_001317185.2:c.538A>T NP_001304114.1:p.Arg180Trp
NM_001317186.2:c.121A>T NP_001304115.1:p.Arg41Trp