Canonical Allele Identifier: CA10583422
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 239894
ClinVar RCV Id: RCV000232461 RCV002487070
dbSNP Id: rs878854684
MyVariant Identifiers: chr16:g.68863696A>G (hg19) chr16:g.68829793A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829793A>G , CM000678.2:g.68829793A>G GRCh38
NC_000016.9:g.68863696A>G , CM000678.1:g.68863696A>G GRCh37
NC_000016.8:g.67421197A>G NCBI36
NG_008021.1:g.97502A>G , LRG_301:g.97502A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2435A>G MANE Select ENSP00000261769.4:p.Asp812Gly
ENST00000261769.9:c.2435A>G ENSP00000261769.4:p.Asp812Gly
ENST00000422392.6:c.2252A>G ENSP00000414946.2:p.Asp751Gly
ENST00000562118.1:n.653A>G
ENST00000562836.5:n.2506A>G
ENST00000566510.5:c.*1101A>G ENSP00000458139.1:n.*1101A>G
ENST00000566612.5:c.*675A>G ENSP00000454782.1:n.*675A>G
ENST00000611625.4:c.2498A>G ENSP00000481063.1:p.Asp833Gly
ENST00000612417.4:c.1853+3239A>G ENSP00000478360.1:n.1853+3239A>G
ENST00000621016.4:c.1866-4410A>G ENSP00000480664.1:n.1866-4410A>G
NM_004360.3:c.2435A>G , LRG_301t1:c.2435A>G NP_004351.1:p.Asp812Gly
XM_011523488.1:c.1700A>G XP_011521790.1:p.Asp567Gly
XM_011523489.1:c.1700A>G XP_011521791.1:p.Asp567Gly
NM_001317184.1:c.2252A>G NP_001304113.1:p.Asp751Gly
NM_001317185.1:c.887A>G NP_001304114.1:p.Asp296Gly
NM_001317186.1:c.470A>G NP_001304115.1:p.Asp157Gly
NM_004360.4:c.2435A>G NP_004351.1:p.Asp812Gly
NM_004360.5:c.2435A>G MANE Select NP_004351.1:p.Asp812Gly
NM_001317184.2:c.2252A>G NP_001304113.1:p.Asp751Gly
NM_001317185.2:c.887A>G NP_001304114.1:p.Asp296Gly
NM_001317186.2:c.470A>G NP_001304115.1:p.Asp157Gly
Search 100 bp 5'
Search 100 bp 3'