Canonical Allele Identifier: CA277587
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 223661
ClinVar RCV Id: RCV000209262
dbSNP Id: rs112622910
gnomAD v2: 16-68771569-C-T
gnomAD v3: 16-68737666-C-T
gnomAD v4: 16-68737666-C-T
MyVariant Identifiers: chr16:g.68771569C>T (hg19) chr16:g.68737666C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68737666C>T , CM000678.2:g.68737666C>T GRCh38
NC_000016.9:g.68771569C>T , CM000678.1:g.68771569C>T GRCh37
NC_000016.8:g.67329070C>T NCBI36
NG_008021.1:g.5375C>T , LRG_301:g.5375C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.48+203C>T MANE Select ENSP00000261769.4:n.48+203C>T
ENST00000261769.9:c.48+203C>T ENSP00000261769.4:n.48+203C>T
ENST00000422392.6:c.48+203C>T ENSP00000414946.2:n.48+203C>T
ENST00000566510.5:c.48+203C>T ENSP00000458139.1:n.48+203C>T
ENST00000566612.5:c.48+203C>T ENSP00000454782.1:n.48+203C>T
ENST00000611625.4:c.48+203C>T ENSP00000481063.1:n.48+203C>T
ENST00000612417.4:c.48+203C>T ENSP00000478360.1:n.48+203C>T
ENST00000621016.4:c.48+203C>T ENSP00000480664.1:n.48+203C>T
NM_004360.3:c.48+203C>T , LRG_301t1:c.48+203C>T NP_004351.1:n.48+203C>T
NM_001317184.1:c.48+203C>T NP_001304113.1:n.48+203C>T
NM_001317185.1:c.-1568+203C>T NP_001304114.1:n.-1568+203C>T
NM_001317186.1:c.-1772+203C>T NP_001304115.1:n.-1772+203C>T
NM_004360.4:c.48+203C>T NP_004351.1:n.48+203C>T
NM_004360.5:c.48+203C>T MANE Select NP_004351.1:n.48+203C>T
NM_001317184.2:c.48+203C>T NP_001304113.1:n.48+203C>T
NM_001317185.2:c.-1568+203C>T NP_001304114.1:n.-1568+203C>T
NM_001317186.2:c.-1772+203C>T NP_001304115.1:n.-1772+203C>T
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