Canonical Allele Identifier: CA396471315
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583413
ClinVar RCV Id: RCV003337084
MyVariant Identifiers: chr16:g.68863683G>T (hg19) chr16:g.68829780G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829780G>T , CM000678.2:g.68829780G>T GRCh38
NC_000016.9:g.68863683G>T , CM000678.1:g.68863683G>T GRCh37
NC_000016.8:g.67421184G>T NCBI36
NG_008021.1:g.97489G>T , LRG_301:g.97489G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2422G>T MANE Select ENSP00000261769.4:p.Gly808Ter
ENST00000261769.9:c.2422G>T ENSP00000261769.4:p.Gly808Ter
ENST00000422392.6:c.2239G>T ENSP00000414946.2:p.Gly747Ter
ENST00000562118.1:n.640G>T
ENST00000562836.5:n.2493G>T
ENST00000566510.5:c.*1088G>T ENSP00000458139.1:n.*1088G>T
ENST00000566612.5:c.*662G>T ENSP00000454782.1:n.*662G>T
ENST00000611625.4:c.2485G>T ENSP00000481063.1:p.Gly829Ter
ENST00000612417.4:c.1853+3226G>T ENSP00000478360.1:n.1853+3226G>T
ENST00000621016.4:c.1866-4423G>T ENSP00000480664.1:n.1866-4423G>T
NM_004360.3:c.2422G>T , LRG_301t1:c.2422G>T NP_004351.1:p.Gly808Ter
XM_011523488.1:c.1687G>T XP_011521790.1:p.Gly563Ter
XM_011523489.1:c.1687G>T XP_011521791.1:p.Gly563Ter
NM_001317184.1:c.2239G>T NP_001304113.1:p.Gly747Ter
NM_001317185.1:c.874G>T NP_001304114.1:p.Gly292Ter
NM_001317186.1:c.457G>T NP_001304115.1:p.Gly153Ter
NM_004360.4:c.2422G>T NP_004351.1:p.Gly808Ter
NM_004360.5:c.2422G>T MANE Select NP_004351.1:p.Gly808Ter
NM_001317184.2:c.2239G>T NP_001304113.1:p.Gly747Ter
NM_001317185.2:c.874G>T NP_001304114.1:p.Gly292Ter
NM_001317186.2:c.457G>T NP_001304115.1:p.Gly153Ter
Search 100 bp 5'
Search 100 bp 3'