Canonical Allele Identifier: CA396471339
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1428957
ClinVar RCV Id: RCV001967126
dbSNP Id: rs772173832
MyVariant Identifiers: chr16:g.68863688T>G (hg19) chr16:g.68829785T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829785T>G , CM000678.2:g.68829785T>G GRCh38
NC_000016.9:g.68863688T>G , CM000678.1:g.68863688T>G GRCh37
NC_000016.8:g.67421189T>G NCBI36
NG_008021.1:g.97494T>G , LRG_301:g.97494T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2427T>G MANE Select ENSP00000261769.4:p.Asn809Lys
ENST00000261769.9:c.2427T>G ENSP00000261769.4:p.Asn809Lys
ENST00000422392.6:c.2244T>G ENSP00000414946.2:p.Asn748Lys
ENST00000562118.1:n.645T>G
ENST00000562836.5:n.2498T>G
ENST00000566510.5:c.*1093T>G ENSP00000458139.1:n.*1093T>G
ENST00000566612.5:c.*667T>G ENSP00000454782.1:n.*667T>G
ENST00000611625.4:c.2490T>G ENSP00000481063.1:p.Asn830Lys
ENST00000612417.4:c.1853+3231T>G ENSP00000478360.1:n.1853+3231T>G
ENST00000621016.4:c.1866-4418T>G ENSP00000480664.1:n.1866-4418T>G
NM_004360.3:c.2427T>G , LRG_301t1:c.2427T>G NP_004351.1:p.Asn809Lys
XM_011523488.1:c.1692T>G XP_011521790.1:p.Asn564Lys
XM_011523489.1:c.1692T>G XP_011521791.1:p.Asn564Lys
NM_001317184.1:c.2244T>G NP_001304113.1:p.Asn748Lys
NM_001317185.1:c.879T>G NP_001304114.1:p.Asn293Lys
NM_001317186.1:c.462T>G NP_001304115.1:p.Asn154Lys
NM_004360.4:c.2427T>G NP_004351.1:p.Asn809Lys
NM_004360.5:c.2427T>G MANE Select NP_004351.1:p.Asn809Lys
NM_001317184.2:c.2244T>G NP_001304113.1:p.Asn748Lys
NM_001317185.2:c.879T>G NP_001304114.1:p.Asn293Lys
NM_001317186.2:c.462T>G NP_001304115.1:p.Asn154Lys
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