Canonical Allele Identifier: CA16608252
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 389674
ClinVar RCV Id: RCV000425377
dbSNP Id: rs1057523505
MyVariant Identifiers: chr16:g.68867401A>T (hg19) chr16:g.68833498A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833498A>T , CM000678.2:g.68833498A>T GRCh38
NC_000016.9:g.68867401A>T , CM000678.1:g.68867401A>T GRCh37
NC_000016.8:g.67424902A>T NCBI36
NG_008021.1:g.101207A>T , LRG_301:g.101207A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2648A>T MANE Select ENSP00000261769.4:p.Ter883Leu
ENST00000261769.9:c.2648A>T ENSP00000261769.4:p.Ter883Leu
ENST00000422392.6:c.2465A>T ENSP00000414946.2:p.Ter822Leu
ENST00000562118.1:n.866A>T
ENST00000562836.5:n.2719A>T
ENST00000566510.5:c.*1314A>T ENSP00000458139.1:n.*1314A>T
ENST00000566612.5:c.*888A>T ENSP00000454782.1:n.*888A>T
ENST00000611625.4:c.2711A>T ENSP00000481063.1:p.Ter904Leu
ENST00000612417.4:c.1854-693A>T ENSP00000478360.1:n.1854-693A>T
ENST00000621016.4:c.1866-705A>T ENSP00000480664.1:n.1866-705A>T
NM_004360.3:c.2648A>T , LRG_301t1:c.2648A>T NP_004351.1:p.Ter883Leu
XM_011523488.1:c.1913A>T XP_011521790.1:p.Ter638Leu
XM_011523489.1:c.1913A>T XP_011521791.1:p.Ter638Leu
NM_001317184.1:c.2465A>T NP_001304113.1:p.Ter822Leu
NM_001317185.1:c.1100A>T NP_001304114.1:p.Ter367Leu
NM_001317186.1:c.683A>T NP_001304115.1:p.Ter228Leu
NM_004360.4:c.2648A>T NP_004351.1:p.Ter883Leu
NM_004360.5:c.2648A>T MANE Select NP_004351.1:p.Ter883Leu
NM_001317184.2:c.2465A>T NP_001304113.1:p.Ter822Leu
NM_001317185.2:c.1100A>T NP_001304114.1:p.Ter367Leu
NM_001317186.2:c.683A>T NP_001304115.1:p.Ter228Leu
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