Canonical Allele Identifier: CA396458930
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 630064
ClinVar RCV Id: RCV001215673 RCV002307612 RCV000774980
dbSNP Id: rs1567505776
MyVariant Identifiers: chr16:g.68844227T>C (hg19) chr16:g.68810324T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810324T>C , CM000678.2:g.68810324T>C GRCh38
NC_000016.9:g.68844227T>C , CM000678.1:g.68844227T>C GRCh37
NC_000016.8:g.67401728T>C NCBI36
NG_008021.1:g.78033T>C , LRG_301:g.78033T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.815T>C MANE Select ENSP00000261769.4:p.Met272Thr
ENST00000261769.9:c.815T>C ENSP00000261769.4:p.Met272Thr
ENST00000422392.6:c.815T>C ENSP00000414946.2:p.Met272Thr
ENST00000561751.1:c.455-1360T>C
ENST00000562836.5:n.886T>C
ENST00000566510.5:c.659T>C ENSP00000458139.1:p.Met220Thr
ENST00000566612.5:c.815T>C ENSP00000454782.1:p.Met272Thr
ENST00000611625.4:c.815T>C ENSP00000481063.1:p.Met272Thr
ENST00000612417.4:c.815T>C ENSP00000478360.1:p.Met272Thr
ENST00000621016.4:c.815T>C ENSP00000480664.1:p.Met272Thr
NM_004360.3:c.815T>C , LRG_301t1:c.815T>C NP_004351.1:p.Met272Thr
XM_011523488.1:c.80T>C XP_011521790.1:p.Met27Thr
XM_011523489.1:c.80T>C XP_011521791.1:p.Met27Thr
NM_001317184.1:c.815T>C NP_001304113.1:p.Met272Thr
NM_001317185.1:c.-801T>C NP_001304114.1:n.-801T>C
NM_001317186.1:c.-1005T>C NP_001304115.1:n.-1005T>C
NM_004360.4:c.815T>C NP_004351.1:p.Met272Thr
NM_004360.5:c.815T>C MANE Select NP_004351.1:p.Met272Thr
NM_001317184.2:c.815T>C NP_001304113.1:p.Met272Thr
NM_001317185.2:c.-801T>C NP_001304114.1:n.-801T>C
NM_001317186.2:c.-1005T>C NP_001304115.1:n.-1005T>C
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