Canonical Allele Identifier: CA163713
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 140841
ClinVar RCV Id: RCV000200831 RCV000129041 RCV001264574 RCV002286408 RCV000478861 RCV000765309
dbSNP Id: rs587781312
ExAC: 16:68867227 C / T
gnomAD v2: 16-68867227-C-T
gnomAD v3: 16-68833324-C-T
gnomAD v4: 16-68833324-C-T
COSMIC: COSM393288
MyVariant Identifiers: chr16:g.68867227C>T (hg19) chr16:g.68833324C>T (hg38)
PubMed: PMID:25067988
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833324C>T , CM000678.2:g.68833324C>T GRCh38
NC_000016.9:g.68867227C>T , CM000678.1:g.68867227C>T GRCh37
NC_000016.8:g.67424728C>T NCBI36
NG_008021.1:g.101033C>T , LRG_301:g.101033C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2474C>T MANE Select ENSP00000261769.4:p.Pro825Leu
ENST00000261769.9:c.2474C>T ENSP00000261769.4:p.Pro825Leu
ENST00000422392.6:c.2291C>T ENSP00000414946.2:p.Pro764Leu
ENST00000562118.1:n.692C>T
ENST00000562836.5:n.2545C>T
ENST00000566510.5:c.*1140C>T ENSP00000458139.1:n.*1140C>T
ENST00000566612.5:c.*714C>T ENSP00000454782.1:n.*714C>T
ENST00000611625.4:c.2537C>T ENSP00000481063.1:p.Pro846Leu
ENST00000612417.4:c.1854-867C>T ENSP00000478360.1:n.1854-867C>T
ENST00000621016.4:c.1866-879C>T ENSP00000480664.1:n.1866-879C>T
NM_004360.3:c.2474C>T , LRG_301t1:c.2474C>T NP_004351.1:p.Pro825Leu
XM_011523488.1:c.1739C>T XP_011521790.1:p.Pro580Leu
XM_011523489.1:c.1739C>T XP_011521791.1:p.Pro580Leu
NM_001317184.1:c.2291C>T NP_001304113.1:p.Pro764Leu
NM_001317185.1:c.926C>T NP_001304114.1:p.Pro309Leu
NM_001317186.1:c.509C>T NP_001304115.1:p.Pro170Leu
NM_004360.4:c.2474C>T NP_004351.1:p.Pro825Leu
NM_004360.5:c.2474C>T MANE Select NP_004351.1:p.Pro825Leu
NM_001317184.2:c.2291C>T NP_001304113.1:p.Pro764Leu
NM_001317185.2:c.926C>T NP_001304114.1:p.Pro309Leu
NM_001317186.2:c.509C>T NP_001304115.1:p.Pro170Leu
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