Canonical Allele Identifier: CA396471960
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496818
ClinVar RCV Id: RCV000593954 RCV000639208 RCV003328437 RCV003471949
dbSNP Id: rs1555518211
MyVariant Identifiers: chr16:g.68867199A>T (hg19) chr16:g.68833296A>T (hg38)
ERepo: CA396471960/MONDO:0007648/007 CA396471960/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833296A>T , CM000678.2:g.68833296A>T GRCh38
NC_000016.9:g.68867199A>T , CM000678.1:g.68867199A>T GRCh37
NC_000016.8:g.67424700A>T NCBI36
NG_008021.1:g.101005A>T , LRG_301:g.101005A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2446A>T MANE Select ENSP00000261769.4:p.Lys816Ter
ENST00000261769.9:c.2446A>T ENSP00000261769.4:p.Lys816Ter
ENST00000422392.6:c.2263A>T ENSP00000414946.2:p.Lys755Ter
ENST00000562118.1:n.664A>T
ENST00000562836.5:n.2517A>T
ENST00000566510.5:c.*1112A>T ENSP00000458139.1:n.*1112A>T
ENST00000566612.5:c.*686A>T ENSP00000454782.1:n.*686A>T
ENST00000611625.4:c.2509A>T ENSP00000481063.1:p.Lys837Ter
ENST00000612417.4:c.1854-895A>T ENSP00000478360.1:n.1854-895A>T
ENST00000621016.4:c.1866-907A>T ENSP00000480664.1:n.1866-907A>T
NM_004360.3:c.2446A>T , LRG_301t1:c.2446A>T NP_004351.1:p.Lys816Ter
XM_011523488.1:c.1711A>T XP_011521790.1:p.Lys571Ter
XM_011523489.1:c.1711A>T XP_011521791.1:p.Lys571Ter
NM_001317184.1:c.2263A>T NP_001304113.1:p.Lys755Ter
NM_001317185.1:c.898A>T NP_001304114.1:p.Lys300Ter
NM_001317186.1:c.481A>T NP_001304115.1:p.Lys161Ter
NM_004360.4:c.2446A>T NP_004351.1:p.Lys816Ter
NM_004360.5:c.2446A>T MANE Select NP_004351.1:p.Lys816Ter
NM_001317184.2:c.2263A>T NP_001304113.1:p.Lys755Ter
NM_001317185.2:c.898A>T NP_001304114.1:p.Lys300Ter
NM_001317186.2:c.481A>T NP_001304115.1:p.Lys161Ter
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