Canonical Allele Identifier: CA192499
Gene: CDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68823458A>C , CM000678.2:g.68823458A>C GRCh38
NC_000016.9:g.68857361A>C , CM000678.1:g.68857361A>C GRCh37
NC_000016.8:g.67414862A>C NCBI36
NG_008021.1:g.91167A>C , LRG_301:g.91167A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1996A>C MANE Select ENSP00000261769.4:p.Asn666His
ENST00000261769.9:c.1996A>C ENSP00000261769.4:p.Asn666His
ENST00000422392.6:c.1813A>C ENSP00000414946.2:p.Asn605His
ENST00000562118.1:n.214A>C
ENST00000562836.5:n.2067A>C
ENST00000566510.5:c.*662A>C ENSP00000458139.1:n.*662A>C
ENST00000566612.5:c.*236A>C ENSP00000454782.1:n.*236A>C
ENST00000611625.4:c.2059A>C ENSP00000481063.1:p.Asn687His
ENST00000612417.4:c.1830+1339A>C ENSP00000478360.1:n.1830+1339A>C
ENST00000621016.4:c.1865+1304A>C ENSP00000480664.1:n.1865+1304A>C
NM_004360.3:c.1996A>C , LRG_301t1:c.1996A>C NP_004351.1:p.Asn666His
XM_011523488.1:c.1261A>C XP_011521790.1:p.Asn421His
XM_011523489.1:c.1261A>C XP_011521791.1:p.Asn421His
NM_001317184.1:c.1813A>C NP_001304113.1:p.Asn605His
NM_001317185.1:c.448A>C NP_001304114.1:p.Asn150His
NM_001317186.1:c.31A>C NP_001304115.1:p.Asn11His
NM_004360.4:c.1996A>C NP_004351.1:p.Asn666His
NM_004360.5:c.1996A>C MANE Select NP_004351.1:p.Asn666His
NM_001317184.2:c.1813A>C NP_001304113.1:p.Asn605His
NM_001317185.2:c.448A>C NP_001304114.1:p.Asn150His
NM_001317186.2:c.31A>C NP_001304115.1:p.Asn11His