Canonical Allele Identifier: CA396472195
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 948358
ClinVar RCV Id: RCV001219595
dbSNP Id: rs1961536179

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833353T>C , CM000678.2:g.68833353T>C GRCh38
NC_000016.9:g.68867256T>C , CM000678.1:g.68867256T>C GRCh37
NC_000016.8:g.67424757T>C NCBI36
NG_008021.1:g.101062T>C , LRG_301:g.101062T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2503T>C MANE Select ENSP00000261769.4:p.Tyr835His
ENST00000261769.9:c.2503T>C ENSP00000261769.4:p.Tyr835His
ENST00000422392.6:c.2320T>C ENSP00000414946.2:p.Tyr774His
ENST00000562118.1:n.721T>C
ENST00000562836.5:n.2574T>C
ENST00000566510.5:c.*1169T>C ENSP00000458139.1:n.*1169T>C
ENST00000566612.5:c.*743T>C ENSP00000454782.1:n.*743T>C
ENST00000611625.4:c.2566T>C ENSP00000481063.1:p.Tyr856His
ENST00000612417.4:c.1854-838T>C ENSP00000478360.1:n.1854-838T>C
ENST00000621016.4:c.1866-850T>C ENSP00000480664.1:n.1866-850T>C
NM_004360.3:c.2503T>C , LRG_301t1:c.2503T>C NP_004351.1:p.Tyr835His
XM_011523488.1:c.1768T>C XP_011521790.1:p.Tyr590His
XM_011523489.1:c.1768T>C XP_011521791.1:p.Tyr590His
NM_001317184.1:c.2320T>C NP_001304113.1:p.Tyr774His
NM_001317185.1:c.955T>C NP_001304114.1:p.Tyr319His
NM_001317186.1:c.538T>C NP_001304115.1:p.Tyr180His
NM_004360.4:c.2503T>C NP_004351.1:p.Tyr835His
NM_004360.5:c.2503T>C MANE Select NP_004351.1:p.Tyr835His
NM_001317184.2:c.2320T>C NP_001304113.1:p.Tyr774His
NM_001317185.2:c.955T>C NP_001304114.1:p.Tyr319His
NM_001317186.2:c.538T>C NP_001304115.1:p.Tyr180His