Canonical Allele Identifier: CA496157347
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 506738
ClinVar RCV Id: RCV000609761 RCV001015137 RCV002062840
dbSNP Id: rs754162869
gnomAD v4: 16-68829668-C-T
MyVariant Identifiers: chr16:g.68863571C>T (hg19) chr16:g.68829668C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829668C>T , CM000678.2:g.68829668C>T GRCh38
NC_000016.9:g.68863571C>T , CM000678.1:g.68863571C>T GRCh37
NC_000016.8:g.67421072C>T NCBI36
NG_008021.1:g.97377C>T , LRG_301:g.97377C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2310C>T MANE Select ENSP00000261769.4:p.Ser770=
ENST00000261769.9:c.2310C>T ENSP00000261769.4:p.Ser770=
ENST00000422392.6:c.2127C>T ENSP00000414946.2:p.Ser709=
ENST00000562118.1:n.528C>T
ENST00000562836.5:n.2381C>T
ENST00000566510.5:c.*976C>T ENSP00000458139.1:n.*976C>T
ENST00000566612.5:c.*550C>T ENSP00000454782.1:n.*550C>T
ENST00000611625.4:c.2373C>T ENSP00000481063.1:p.Ser791=
ENST00000612417.4:c.1853+3114C>T ENSP00000478360.1:n.1853+3114C>T
ENST00000621016.4:c.1866-4535C>T ENSP00000480664.1:n.1866-4535C>T
NM_004360.3:c.2310C>T , LRG_301t1:c.2310C>T NP_004351.1:p.Ser770=
XM_011523488.1:c.1575C>T XP_011521790.1:p.Ser525=
XM_011523489.1:c.1575C>T XP_011521791.1:p.Ser525=
NM_001317184.1:c.2127C>T NP_001304113.1:p.Ser709=
NM_001317185.1:c.762C>T NP_001304114.1:p.Ser254=
NM_001317186.1:c.345C>T NP_001304115.1:p.Ser115=
NM_004360.4:c.2310C>T NP_004351.1:p.Ser770=
NM_004360.5:c.2310C>T MANE Select NP_004351.1:p.Ser770=
NM_001317184.2:c.2127C>T NP_001304113.1:p.Ser709=
NM_001317185.2:c.762C>T NP_001304114.1:p.Ser254=
NM_001317186.2:c.345C>T NP_001304115.1:p.Ser115=
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