Canonical Allele Identifier: CA396471965
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1034578
ClinVar RCV Id: RCV001337320
dbSNP Id: rs1961532809
MyVariant Identifiers: chr16:g.68867200A>T (hg19) chr16:g.68833297A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833297A>T , CM000678.2:g.68833297A>T GRCh38
NC_000016.9:g.68867200A>T , CM000678.1:g.68867200A>T GRCh37
NC_000016.8:g.67424701A>T NCBI36
NG_008021.1:g.101006A>T , LRG_301:g.101006A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2447A>T MANE Select ENSP00000261769.4:p.Lys816Ile
ENST00000261769.9:c.2447A>T ENSP00000261769.4:p.Lys816Ile
ENST00000422392.6:c.2264A>T ENSP00000414946.2:p.Lys755Ile
ENST00000562118.1:n.665A>T
ENST00000562836.5:n.2518A>T
ENST00000566510.5:c.*1113A>T ENSP00000458139.1:n.*1113A>T
ENST00000566612.5:c.*687A>T ENSP00000454782.1:n.*687A>T
ENST00000611625.4:c.2510A>T ENSP00000481063.1:p.Lys837Ile
ENST00000612417.4:c.1854-894A>T ENSP00000478360.1:n.1854-894A>T
ENST00000621016.4:c.1866-906A>T ENSP00000480664.1:n.1866-906A>T
NM_004360.3:c.2447A>T , LRG_301t1:c.2447A>T NP_004351.1:p.Lys816Ile
XM_011523488.1:c.1712A>T XP_011521790.1:p.Lys571Ile
XM_011523489.1:c.1712A>T XP_011521791.1:p.Lys571Ile
NM_001317184.1:c.2264A>T NP_001304113.1:p.Lys755Ile
NM_001317185.1:c.899A>T NP_001304114.1:p.Lys300Ile
NM_001317186.1:c.482A>T NP_001304115.1:p.Lys161Ile
NM_004360.4:c.2447A>T NP_004351.1:p.Lys816Ile
NM_004360.5:c.2447A>T MANE Select NP_004351.1:p.Lys816Ile
NM_001317184.2:c.2264A>T NP_001304113.1:p.Lys755Ile
NM_001317185.2:c.899A>T NP_001304114.1:p.Lys300Ile
NM_001317186.2:c.482A>T NP_001304115.1:p.Lys161Ile
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