Canonical Allele Identifier: CA194301
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 186267
dbSNP Id: rs786202817

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68812265T>C , CM000678.2:g.68812265T>C GRCh38
NC_000016.9:g.68846168T>C , CM000678.1:g.68846168T>C GRCh37
NC_000016.8:g.67403669T>C NCBI36
NG_008021.1:g.79974T>C , LRG_301:g.79974T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1137+2T>C MANE Select ENSP00000261769.4:n.1137+2T>C
ENST00000261769.9:c.1137+2T>C ENSP00000261769.4:n.1137+2T>C
ENST00000422392.6:c.1137+2T>C ENSP00000414946.2:n.1137+2T>C
ENST00000562836.5:n.1208+2T>C
ENST00000565810.1:n.181+2T>C
ENST00000566510.5:c.981+2T>C ENSP00000458139.1:n.981+2T>C
ENST00000566612.5:c.1137+2T>C ENSP00000454782.1:n.1137+2T>C
ENST00000611625.4:c.1137+2T>C ENSP00000481063.1:n.1137+2T>C
ENST00000612417.4:c.1137+2T>C ENSP00000478360.1:n.1137+2T>C
ENST00000621016.4:c.1137+2T>C ENSP00000480664.1:n.1137+2T>C
NM_004360.3:c.1137+2T>C , LRG_301t1:c.1137+2T>C NP_004351.1:n.1137+2T>C
XM_011523488.1:c.402+2T>C XP_011521790.1:n.402+2T>C
XM_011523489.1:c.402+2T>C XP_011521791.1:n.402+2T>C
NM_001317184.1:c.1137+2T>C NP_001304113.1:n.1137+2T>C
NM_001317185.1:c.-479+2T>C NP_001304114.1:n.-479+2T>C
NM_001317186.1:c.-683+2T>C NP_001304115.1:n.-683+2T>C
NM_004360.4:c.1137+2T>C NP_004351.1:n.1137+2T>C
NM_004360.5:c.1137+2T>C MANE Select NP_004351.1:n.1137+2T>C
NM_001317184.2:c.1137+2T>C NP_001304113.1:n.1137+2T>C
NM_001317185.2:c.-479+2T>C NP_001304114.1:n.-479+2T>C
NM_001317186.2:c.-683+2T>C NP_001304115.1:n.-683+2T>C