Canonical Allele Identifier: CA396470831
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1721800
ClinVar RCV Id: RCV002295037
MyVariant Identifiers: chr16:g.68863574G>T (hg19) chr16:g.68829671G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829671G>T , CM000678.2:g.68829671G>T GRCh38
NC_000016.9:g.68863574G>T , CM000678.1:g.68863574G>T GRCh37
NC_000016.8:g.67421075G>T NCBI36
NG_008021.1:g.97380G>T , LRG_301:g.97380G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2313G>T MANE Select ENSP00000261769.4:p.Gln771His
ENST00000261769.9:c.2313G>T ENSP00000261769.4:p.Gln771His
ENST00000422392.6:c.2130G>T ENSP00000414946.2:p.Gln710His
ENST00000562118.1:n.531G>T
ENST00000562836.5:n.2384G>T
ENST00000566510.5:c.*979G>T ENSP00000458139.1:n.*979G>T
ENST00000566612.5:c.*553G>T ENSP00000454782.1:n.*553G>T
ENST00000611625.4:c.2376G>T ENSP00000481063.1:p.Gln792His
ENST00000612417.4:c.1853+3117G>T ENSP00000478360.1:n.1853+3117G>T
ENST00000621016.4:c.1866-4532G>T ENSP00000480664.1:n.1866-4532G>T
NM_004360.3:c.2313G>T , LRG_301t1:c.2313G>T NP_004351.1:p.Gln771His
XM_011523488.1:c.1578G>T XP_011521790.1:p.Gln526His
XM_011523489.1:c.1578G>T XP_011521791.1:p.Gln526His
NM_001317184.1:c.2130G>T NP_001304113.1:p.Gln710His
NM_001317185.1:c.765G>T NP_001304114.1:p.Gln255His
NM_001317186.1:c.348G>T NP_001304115.1:p.Gln116His
NM_004360.4:c.2313G>T NP_004351.1:p.Gln771His
NM_004360.5:c.2313G>T MANE Select NP_004351.1:p.Gln771His
NM_001317184.2:c.2130G>T NP_001304113.1:p.Gln710His
NM_001317185.2:c.765G>T NP_001304114.1:p.Gln255His
NM_001317186.2:c.348G>T NP_001304115.1:p.Gln116His
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