Canonical Allele Identifier: CA396467255
Gene: CDH1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822210C>G , CM000678.2:g.68822210C>G GRCh38
NC_000016.9:g.68856113C>G , CM000678.1:g.68856113C>G GRCh37
NC_000016.8:g.67413614C>G NCBI36
NG_008021.1:g.89919C>G , LRG_301:g.89919C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1921C>G MANE Select ENSP00000261769.4:p.Gln641Glu
ENST00000261769.9:c.1921C>G ENSP00000261769.4:p.Gln641Glu
ENST00000422392.6:c.1738C>G ENSP00000414946.2:p.Gln580Glu
ENST00000562836.5:n.1992C>G
ENST00000566510.5:c.*587C>G ENSP00000458139.1:n.*587C>G
ENST00000566612.5:c.*161C>G ENSP00000454782.1:n.*161C>G
ENST00000611625.4:c.1984C>G ENSP00000481063.1:p.Gln662Glu
ENST00000612417.4:c.1830+91C>G ENSP00000478360.1:n.1830+91C>G
ENST00000621016.4:c.1865+56C>G ENSP00000480664.1:n.1865+56C>G
NM_004360.3:c.1921C>G , LRG_301t1:c.1921C>G NP_004351.1:p.Gln641Glu
XM_011523488.1:c.1186C>G XP_011521790.1:p.Gln396Glu
XM_011523489.1:c.1186C>G XP_011521791.1:p.Gln396Glu
NM_001317184.1:c.1738C>G NP_001304113.1:p.Gln580Glu
NM_001317185.1:c.373C>G NP_001304114.1:p.Gln125Glu
NM_001317186.1:c.-45C>G NP_001304115.1:n.-45C>G
NM_004360.4:c.1921C>G NP_004351.1:p.Gln641Glu
NM_004360.5:c.1921C>G MANE Select NP_004351.1:p.Gln641Glu
NM_001317184.2:c.1738C>G NP_001304113.1:p.Gln580Glu
NM_001317185.2:c.373C>G NP_001304114.1:p.Gln125Glu
NM_001317186.2:c.-45C>G NP_001304115.1:n.-45C>G