Canonical Allele Identifier: CA396470822
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 428624
ClinVar RCV Id: RCV000492719 RCV003335396 RCV003328374
dbSNP Id: rs1131690813
MyVariant Identifiers: chr16:g.68863572C>T (hg19) chr16:g.68829669C>T (hg38)
ERepo: CA396470822/MONDO:0007648/007 CA396470822/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829669C>T , CM000678.2:g.68829669C>T GRCh38
NC_000016.9:g.68863572C>T , CM000678.1:g.68863572C>T GRCh37
NC_000016.8:g.67421073C>T NCBI36
NG_008021.1:g.97378C>T , LRG_301:g.97378C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2311C>T MANE Select ENSP00000261769.4:p.Gln771Ter
ENST00000261769.9:c.2311C>T ENSP00000261769.4:p.Gln771Ter
ENST00000422392.6:c.2128C>T ENSP00000414946.2:p.Gln710Ter
ENST00000562118.1:n.529C>T
ENST00000562836.5:n.2382C>T
ENST00000566510.5:c.*977C>T ENSP00000458139.1:n.*977C>T
ENST00000566612.5:c.*551C>T ENSP00000454782.1:n.*551C>T
ENST00000611625.4:c.2374C>T ENSP00000481063.1:p.Gln792Ter
ENST00000612417.4:c.1853+3115C>T ENSP00000478360.1:n.1853+3115C>T
ENST00000621016.4:c.1866-4534C>T ENSP00000480664.1:n.1866-4534C>T
NM_004360.3:c.2311C>T , LRG_301t1:c.2311C>T NP_004351.1:p.Gln771Ter
XM_011523488.1:c.1576C>T XP_011521790.1:p.Gln526Ter
XM_011523489.1:c.1576C>T XP_011521791.1:p.Gln526Ter
NM_001317184.1:c.2128C>T NP_001304113.1:p.Gln710Ter
NM_001317185.1:c.763C>T NP_001304114.1:p.Gln255Ter
NM_001317186.1:c.346C>T NP_001304115.1:p.Gln116Ter
NM_004360.4:c.2311C>T NP_004351.1:p.Gln771Ter
NM_004360.5:c.2311C>T MANE Select NP_004351.1:p.Gln771Ter
NM_001317184.2:c.2128C>T NP_001304113.1:p.Gln710Ter
NM_001317185.2:c.763C>T NP_001304114.1:p.Gln255Ter
NM_001317186.2:c.346C>T NP_001304115.1:p.Gln116Ter
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