Canonical Allele Identifier: CA396451393
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2680430
ClinVar RCV Id: RCV003460367
dbSNP Id: rs2152113978
gnomAD v4: 16-68737453-T-C
MyVariant Identifiers: chr16:g.68771356T>C (hg19) chr16:g.68737453T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68737453T>C , CM000678.2:g.68737453T>C GRCh38
NC_000016.9:g.68771356T>C , CM000678.1:g.68771356T>C GRCh37
NC_000016.8:g.67328857T>C NCBI36
NG_008021.1:g.5162T>C , LRG_301:g.5162T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.38T>C MANE Select ENSP00000261769.4:p.Leu13Pro
ENST00000261769.9:c.38T>C ENSP00000261769.4:p.Leu13Pro
ENST00000422392.6:c.38T>C ENSP00000414946.2:p.Leu13Pro
ENST00000566510.5:c.38T>C ENSP00000458139.1:p.Leu13Pro
ENST00000566612.5:c.38T>C ENSP00000454782.1:p.Leu13Pro
ENST00000611625.4:c.38T>C ENSP00000481063.1:p.Leu13Pro
ENST00000612417.4:c.38T>C ENSP00000478360.1:p.Leu13Pro
ENST00000621016.4:c.38T>C ENSP00000480664.1:p.Leu13Pro
NM_004360.3:c.38T>C , LRG_301t1:c.38T>C NP_004351.1:p.Leu13Pro
NM_001317184.1:c.38T>C NP_001304113.1:p.Leu13Pro
NM_001317185.1:c.-1578T>C NP_001304114.1:n.-1578T>C
NM_001317186.1:c.-1782T>C NP_001304115.1:n.-1782T>C
NM_004360.4:c.38T>C NP_004351.1:p.Leu13Pro
NM_004360.5:c.38T>C MANE Select NP_004351.1:p.Leu13Pro
NM_001317184.2:c.38T>C NP_001304113.1:p.Leu13Pro
NM_001317185.2:c.-1578T>C NP_001304114.1:n.-1578T>C
NM_001317186.2:c.-1782T>C NP_001304115.1:n.-1782T>C
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