Canonical Allele Identifier: CA396458754
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 647711
ClinVar RCV Id: RCV000802275
dbSNP Id: rs1555515453

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810296A>G , CM000678.2:g.68810296A>G GRCh38
NC_000016.9:g.68844199A>G , CM000678.1:g.68844199A>G GRCh37
NC_000016.8:g.67401700A>G NCBI36
NG_008021.1:g.78005A>G , LRG_301:g.78005A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.787A>G MANE Select ENSP00000261769.4:p.Thr263Ala
ENST00000261769.9:c.787A>G ENSP00000261769.4:p.Thr263Ala
ENST00000422392.6:c.787A>G ENSP00000414946.2:p.Thr263Ala
ENST00000561751.1:c.455-1388A>G
ENST00000562836.5:n.858A>G
ENST00000566510.5:c.631A>G ENSP00000458139.1:p.Thr211Ala
ENST00000566612.5:c.787A>G ENSP00000454782.1:p.Thr263Ala
ENST00000611625.4:c.787A>G ENSP00000481063.1:p.Thr263Ala
ENST00000612417.4:c.787A>G ENSP00000478360.1:p.Thr263Ala
ENST00000621016.4:c.787A>G ENSP00000480664.1:p.Thr263Ala
NM_004360.3:c.787A>G , LRG_301t1:c.787A>G NP_004351.1:p.Thr263Ala
XM_011523488.1:c.52A>G XP_011521790.1:p.Thr18Ala
XM_011523489.1:c.52A>G XP_011521791.1:p.Thr18Ala
NM_001317184.1:c.787A>G NP_001304113.1:p.Thr263Ala
NM_001317185.1:c.-829A>G NP_001304114.1:n.-829A>G
NM_001317186.1:c.-1033A>G NP_001304115.1:n.-1033A>G
NM_004360.4:c.787A>G NP_004351.1:p.Thr263Ala
NM_004360.5:c.787A>G MANE Select NP_004351.1:p.Thr263Ala
NM_001317184.2:c.787A>G NP_001304113.1:p.Thr263Ala
NM_001317185.2:c.-829A>G NP_001304114.1:n.-829A>G
NM_001317186.2:c.-1033A>G NP_001304115.1:n.-1033A>G