Canonical Allele Identifier: CA294502
Gene: CDH1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815545A>C , CM000678.2:g.68815545A>C GRCh38
NC_000016.9:g.68849448A>C , CM000678.1:g.68849448A>C GRCh37
NC_000016.8:g.67406949A>C NCBI36
NG_008021.1:g.83254A>C , LRG_301:g.83254A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1351A>C MANE Select ENSP00000261769.4:p.Ile451Leu
ENST00000261769.9:c.1351A>C ENSP00000261769.4:p.Ile451Leu
ENST00000422392.6:c.1168A>C ENSP00000414946.2:p.Ile390Leu
ENST00000562836.5:n.1422A>C
ENST00000566510.5:c.*17A>C ENSP00000458139.1:n.*17A>C
ENST00000566612.5:c.1351A>C ENSP00000454782.1:p.Ile451Leu
ENST00000611625.4:c.1414A>C ENSP00000481063.1:p.Ile472Leu
ENST00000612417.4:c.1351A>C ENSP00000478360.1:p.Ile451Leu
ENST00000621016.4:c.1351A>C ENSP00000480664.1:p.Ile451Leu
NM_004360.3:c.1351A>C , LRG_301t1:c.1351A>C NP_004351.1:p.Ile451Leu
XM_011523488.1:c.616A>C XP_011521790.1:p.Ile206Leu
XM_011523489.1:c.616A>C XP_011521791.1:p.Ile206Leu
NM_001317184.1:c.1168A>C NP_001304113.1:p.Ile390Leu
NM_001317185.1:c.-198A>C NP_001304114.1:n.-198A>C
NM_001317186.1:c.-469A>C NP_001304115.1:n.-469A>C
NM_004360.4:c.1351A>C NP_004351.1:p.Ile451Leu
NM_004360.5:c.1351A>C MANE Select NP_004351.1:p.Ile451Leu
NM_001317184.2:c.1168A>C NP_001304113.1:p.Ile390Leu
NM_001317185.2:c.-198A>C NP_001304114.1:n.-198A>C
NM_001317186.2:c.-469A>C NP_001304115.1:n.-469A>C