Canonical Allele Identifier: CA396471303
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 845464
ClinVar RCV Id: RCV001048530 RCV001593218 RCV002451197
dbSNP Id: rs1961433736
gnomAD v4: 16-68829778-T-C
MyVariant Identifiers: chr16:g.68863681T>C (hg19) chr16:g.68829778T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829778T>C , CM000678.2:g.68829778T>C GRCh38
NC_000016.9:g.68863681T>C , CM000678.1:g.68863681T>C GRCh37
NC_000016.8:g.67421182T>C NCBI36
NG_008021.1:g.97487T>C , LRG_301:g.97487T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2420T>C MANE Select ENSP00000261769.4:p.Ile807Thr
ENST00000261769.9:c.2420T>C ENSP00000261769.4:p.Ile807Thr
ENST00000422392.6:c.2237T>C ENSP00000414946.2:p.Ile746Thr
ENST00000562118.1:n.638T>C
ENST00000562836.5:n.2491T>C
ENST00000566510.5:c.*1086T>C ENSP00000458139.1:n.*1086T>C
ENST00000566612.5:c.*660T>C ENSP00000454782.1:n.*660T>C
ENST00000611625.4:c.2483T>C ENSP00000481063.1:p.Ile828Thr
ENST00000612417.4:c.1853+3224T>C ENSP00000478360.1:n.1853+3224T>C
ENST00000621016.4:c.1866-4425T>C ENSP00000480664.1:n.1866-4425T>C
NM_004360.3:c.2420T>C , LRG_301t1:c.2420T>C NP_004351.1:p.Ile807Thr
XM_011523488.1:c.1685T>C XP_011521790.1:p.Ile562Thr
XM_011523489.1:c.1685T>C XP_011521791.1:p.Ile562Thr
NM_001317184.1:c.2237T>C NP_001304113.1:p.Ile746Thr
NM_001317185.1:c.872T>C NP_001304114.1:p.Ile291Thr
NM_001317186.1:c.455T>C NP_001304115.1:p.Ile152Thr
NM_004360.4:c.2420T>C NP_004351.1:p.Ile807Thr
NM_004360.5:c.2420T>C MANE Select NP_004351.1:p.Ile807Thr
NM_001317184.2:c.2237T>C NP_001304113.1:p.Ile746Thr
NM_001317185.2:c.872T>C NP_001304114.1:p.Ile291Thr
NM_001317186.2:c.455T>C NP_001304115.1:p.Ile152Thr
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