Canonical Allele Identifier: CA8130268
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 923966
ClinVar RCV Id: RCV001185077
dbSNP Id: rs756760721
ExAC: 16:68863655 T / C
MyVariant Identifiers: chr16:g.68863655T>C (hg19) chr16:g.68829752T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829752T>C , CM000678.2:g.68829752T>C GRCh38
NC_000016.9:g.68863655T>C , CM000678.1:g.68863655T>C GRCh37
NC_000016.8:g.67421156T>C NCBI36
NG_008021.1:g.97461T>C , LRG_301:g.97461T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2394T>C MANE Select ENSP00000261769.4:p.Leu798=
ENST00000261769.9:c.2394T>C ENSP00000261769.4:p.Leu798=
ENST00000422392.6:c.2211T>C ENSP00000414946.2:p.Leu737=
ENST00000562118.1:n.612T>C
ENST00000562836.5:n.2465T>C
ENST00000566510.5:c.*1060T>C ENSP00000458139.1:n.*1060T>C
ENST00000566612.5:c.*634T>C ENSP00000454782.1:n.*634T>C
ENST00000611625.4:c.2457T>C ENSP00000481063.1:p.Leu819=
ENST00000612417.4:c.1853+3198T>C ENSP00000478360.1:n.1853+3198T>C
ENST00000621016.4:c.1866-4451T>C ENSP00000480664.1:n.1866-4451T>C
NM_004360.3:c.2394T>C , LRG_301t1:c.2394T>C NP_004351.1:p.Leu798=
XM_011523488.1:c.1659T>C XP_011521790.1:p.Leu553=
XM_011523489.1:c.1659T>C XP_011521791.1:p.Leu553=
NM_001317184.1:c.2211T>C NP_001304113.1:p.Leu737=
NM_001317185.1:c.846T>C NP_001304114.1:p.Leu282=
NM_001317186.1:c.429T>C NP_001304115.1:p.Leu143=
NM_004360.4:c.2394T>C NP_004351.1:p.Leu798=
NM_004360.5:c.2394T>C MANE Select NP_004351.1:p.Leu798=
NM_001317184.2:c.2211T>C NP_001304113.1:p.Leu737=
NM_001317185.2:c.846T>C NP_001304114.1:p.Leu282=
NM_001317186.2:c.429T>C NP_001304115.1:p.Leu143=
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