Canonical Allele Identifier: CA189596
Gene: CDH1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68813346G>A , CM000678.2:g.68813346G>A GRCh38
NC_000016.9:g.68847249G>A , CM000678.1:g.68847249G>A GRCh37
NC_000016.8:g.67404750G>A NCBI36
NG_008021.1:g.81055G>A , LRG_301:g.81055G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1171G>A MANE Select ENSP00000261769.4:p.Val391Ile
ENST00000261769.9:c.1171G>A ENSP00000261769.4:p.Val391Ile
ENST00000422392.6:c.1137+1083G>A ENSP00000414946.2:n.1137+1083G>A
ENST00000562836.5:n.1242G>A
ENST00000565810.1:n.215G>A
ENST00000566510.5:c.1015G>A ENSP00000458139.1:p.Val339Ile
ENST00000566612.5:c.1171G>A ENSP00000454782.1:p.Val391Ile
ENST00000611625.4:c.1171G>A ENSP00000481063.1:p.Val391Ile
ENST00000612417.4:c.1171G>A ENSP00000478360.1:p.Val391Ile
ENST00000621016.4:c.1171G>A ENSP00000480664.1:p.Val391Ile
NM_004360.3:c.1171G>A , LRG_301t1:c.1171G>A NP_004351.1:p.Val391Ile
XM_011523488.1:c.436G>A XP_011521790.1:p.Val146Ile
XM_011523489.1:c.436G>A XP_011521791.1:p.Val146Ile
NM_001317184.1:c.1137+1083G>A NP_001304113.1:n.1137+1083G>A
NM_001317185.1:c.-445G>A NP_001304114.1:n.-445G>A
NM_001317186.1:c.-649G>A NP_001304115.1:n.-649G>A
NM_004360.4:c.1171G>A NP_004351.1:p.Val391Ile
NM_004360.5:c.1171G>A MANE Select NP_004351.1:p.Val391Ile
NM_001317184.2:c.1137+1083G>A NP_001304113.1:n.1137+1083G>A
NM_001317185.2:c.-445G>A NP_001304114.1:n.-445G>A
NM_001317186.2:c.-649G>A NP_001304115.1:n.-649G>A