Canonical Allele Identifier: CA913188731
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 920725
ClinVar RCV Id: RCV001179671
dbSNP Id: rs1961531384

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833273T>C , CM000678.2:g.68833273T>C GRCh38
NC_000016.9:g.68867176T>C , CM000678.1:g.68867176T>C GRCh37
NC_000016.8:g.67424677T>C NCBI36
NG_008021.1:g.100982T>C , LRG_301:g.100982T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.2440-17T>C MANE Select ENSP00000261769.4:n.2440-17T>C
ENST00000261769.9:c.2440-17T>C ENSP00000261769.4:n.2440-17T>C
ENST00000422392.6:c.2257-17T>C ENSP00000414946.2:n.2257-17T>C
ENST00000562118.1:n.658-17T>C
ENST00000562836.5:n.2511-17T>C
ENST00000566510.5:c.*1106-17T>C ENSP00000458139.1:n.*1106-17T>C
ENST00000566612.5:c.*680-17T>C ENSP00000454782.1:n.*680-17T>C
ENST00000611625.4:c.2503-17T>C ENSP00000481063.1:n.2503-17T>C
ENST00000612417.4:c.1854-918T>C ENSP00000478360.1:n.1854-918T>C
ENST00000621016.4:c.1866-930T>C ENSP00000480664.1:n.1866-930T>C
NM_004360.3:c.2440-17T>C , LRG_301t1:c.2440-17T>C NP_004351.1:n.2440-17T>C
XM_011523488.1:c.1705-17T>C XP_011521790.1:n.1705-17T>C
XM_011523489.1:c.1705-17T>C XP_011521791.1:n.1705-17T>C
NM_001317184.1:c.2257-17T>C NP_001304113.1:n.2257-17T>C
NM_001317185.1:c.892-17T>C NP_001304114.1:n.892-17T>C
NM_001317186.1:c.475-17T>C NP_001304115.1:n.475-17T>C
NM_004360.4:c.2440-17T>C NP_004351.1:n.2440-17T>C
NM_004360.5:c.2440-17T>C MANE Select NP_004351.1:n.2440-17T>C
NM_001317184.2:c.2257-17T>C NP_001304113.1:n.2257-17T>C
NM_001317185.2:c.892-17T>C NP_001304114.1:n.892-17T>C
NM_001317186.2:c.475-17T>C NP_001304115.1:n.475-17T>C