Canonical Allele Identifier: CA293962
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 140878
ClinVar RCV Id: RCV000129106 RCV000197330 RCV000212350 RCV003460887 RCV003328206
dbSNP Id: rs370973869
ExAC: 16:68835753 C / T
gnomAD v2: 16-68835753-C-T
gnomAD v3: 16-68801850-C-T
gnomAD v4: 16-68801850-C-T
MyVariant Identifiers: chr16:g.68835753C>T (hg19) chr16:g.68801850C>T (hg38)
ERepo: CA293962/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801850C>T , CM000678.2:g.68801850C>T GRCh38
NC_000016.9:g.68835753C>T , CM000678.1:g.68835753C>T GRCh37
NC_000016.8:g.67393254C>T NCBI36
NG_008021.1:g.69559C>T , LRG_301:g.69559C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.344C>T MANE Select ENSP00000261769.4:p.Thr115Met
ENST00000261769.9:c.344C>T ENSP00000261769.4:p.Thr115Met
ENST00000422392.6:c.344C>T ENSP00000414946.2:p.Thr115Met
ENST00000561751.1:c.111C>T
ENST00000562836.5:n.415C>T
ENST00000564676.5:n.626C>T
ENST00000564745.1:n.339C>T
ENST00000566510.5:c.344C>T ENSP00000458139.1:p.Thr115Met
ENST00000566612.5:c.344C>T ENSP00000454782.1:p.Thr115Met
ENST00000611625.4:c.344C>T ENSP00000481063.1:p.Thr115Met
ENST00000612417.4:c.344C>T ENSP00000478360.1:p.Thr115Met
ENST00000621016.4:c.344C>T ENSP00000480664.1:p.Thr115Met
NM_004360.3:c.344C>T , LRG_301t1:c.344C>T NP_004351.1:p.Thr115Met
XM_011523488.1:c.-392C>T XP_011521790.1:n.-392C>T
XM_011523489.1:c.-392C>T XP_011521791.1:n.-392C>T
NM_001317184.1:c.344C>T NP_001304113.1:p.Thr115Met
NM_001317185.1:c.-1272C>T NP_001304114.1:n.-1272C>T
NM_001317186.1:c.-1476C>T NP_001304115.1:n.-1476C>T
NM_004360.4:c.344C>T NP_004351.1:p.Thr115Met
NM_004360.5:c.344C>T MANE Select NP_004351.1:p.Thr115Met
NM_001317184.2:c.344C>T NP_001304113.1:p.Thr115Met
NM_001317185.2:c.-1272C>T NP_001304114.1:n.-1272C>T
NM_001317186.2:c.-1476C>T NP_001304115.1:n.-1476C>T
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