Canonical Allele Identifier: CA396457506
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2035293
ClinVar RCV Id: RCV002889959
dbSNP Id: rs764700595

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801893G>C , CM000678.2:g.68801893G>C GRCh38
NC_000016.9:g.68835796G>C , CM000678.1:g.68835796G>C GRCh37
NC_000016.8:g.67393297G>C NCBI36
NG_008021.1:g.69602G>C , LRG_301:g.69602G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.387G>C MANE Select ENSP00000261769.4:p.Gln129His
ENST00000261769.9:c.387G>C ENSP00000261769.4:p.Gln129His
ENST00000422392.6:c.387G>C ENSP00000414946.2:p.Gln129His
ENST00000561751.1:c.154G>C
ENST00000562836.5:n.458G>C
ENST00000564676.5:n.669G>C
ENST00000564745.1:n.382G>C
ENST00000566510.5:c.387G>C ENSP00000458139.1:p.Gln129His
ENST00000566612.5:c.387G>C ENSP00000454782.1:p.Gln129His
ENST00000611625.4:c.387G>C ENSP00000481063.1:p.Gln129His
ENST00000612417.4:c.387G>C ENSP00000478360.1:p.Gln129His
ENST00000621016.4:c.387G>C ENSP00000480664.1:p.Gln129His
NM_004360.3:c.387G>C , LRG_301t1:c.387G>C NP_004351.1:p.Gln129His
XM_011523488.1:c.-349G>C XP_011521790.1:n.-349G>C
XM_011523489.1:c.-349G>C XP_011521791.1:n.-349G>C
NM_001317184.1:c.387G>C NP_001304113.1:p.Gln129His
NM_001317185.1:c.-1229G>C NP_001304114.1:n.-1229G>C
NM_001317186.1:c.-1433G>C NP_001304115.1:n.-1433G>C
NM_004360.4:c.387G>C NP_004351.1:p.Gln129His
NM_004360.5:c.387G>C MANE Select NP_004351.1:p.Gln129His
NM_001317184.2:c.387G>C NP_001304113.1:p.Gln129His
NM_001317185.2:c.-1229G>C NP_001304114.1:n.-1229G>C
NM_001317186.2:c.-1433G>C NP_001304115.1:n.-1433G>C