Canonical Allele Identifier: CA396472624
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496819
ClinVar RCV Id: RCV000597446 RCV000662745 RCV003328438
dbSNP Id: rs1555518270
gnomAD v4: 16-68833444-G-A
MyVariant Identifiers: chr16:g.68867347G>A (hg19) chr16:g.68833444G>A (hg38)
ERepo: CA396472624/MONDO:0007648/007 CA396472624/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833444G>A , CM000678.2:g.68833444G>A GRCh38
NC_000016.9:g.68867347G>A , CM000678.1:g.68867347G>A GRCh37
NC_000016.8:g.67424848G>A NCBI36
NG_008021.1:g.101153G>A , LRG_301:g.101153G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2594G>A MANE Select ENSP00000261769.4:p.Trp865Ter
ENST00000261769.9:c.2594G>A ENSP00000261769.4:p.Trp865Ter
ENST00000422392.6:c.2411G>A ENSP00000414946.2:p.Trp804Ter
ENST00000562118.1:n.812G>A
ENST00000562836.5:n.2665G>A
ENST00000566510.5:c.*1260G>A ENSP00000458139.1:n.*1260G>A
ENST00000566612.5:c.*834G>A ENSP00000454782.1:n.*834G>A
ENST00000611625.4:c.2657G>A ENSP00000481063.1:p.Trp886Ter
ENST00000612417.4:c.1854-747G>A ENSP00000478360.1:n.1854-747G>A
ENST00000621016.4:c.1866-759G>A ENSP00000480664.1:n.1866-759G>A
NM_004360.3:c.2594G>A , LRG_301t1:c.2594G>A NP_004351.1:p.Trp865Ter
XM_011523488.1:c.1859G>A XP_011521790.1:p.Trp620Ter
XM_011523489.1:c.1859G>A XP_011521791.1:p.Trp620Ter
NM_001317184.1:c.2411G>A NP_001304113.1:p.Trp804Ter
NM_001317185.1:c.1046G>A NP_001304114.1:p.Trp349Ter
NM_001317186.1:c.629G>A NP_001304115.1:p.Trp210Ter
NM_004360.4:c.2594G>A NP_004351.1:p.Trp865Ter
NM_004360.5:c.2594G>A MANE Select NP_004351.1:p.Trp865Ter
NM_001317184.2:c.2411G>A NP_001304113.1:p.Trp804Ter
NM_001317185.2:c.1046G>A NP_001304114.1:p.Trp349Ter
NM_001317186.2:c.629G>A NP_001304115.1:p.Trp210Ter
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