Canonical Allele Identifier: CA396471373
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2494271
ClinVar RCV Id: RCV003215814
dbSNP Id: rs2152142477
MyVariant Identifiers: chr16:g.68863695G>T (hg19) chr16:g.68829792G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829792G>T , CM000678.2:g.68829792G>T GRCh38
NC_000016.9:g.68863695G>T , CM000678.1:g.68863695G>T GRCh37
NC_000016.8:g.67421196G>T NCBI36
NG_008021.1:g.97501G>T , LRG_301:g.97501G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2434G>T MANE Select ENSP00000261769.4:p.Asp812Tyr
ENST00000261769.9:c.2434G>T ENSP00000261769.4:p.Asp812Tyr
ENST00000422392.6:c.2251G>T ENSP00000414946.2:p.Asp751Tyr
ENST00000562118.1:n.652G>T
ENST00000562836.5:n.2505G>T
ENST00000566510.5:c.*1100G>T ENSP00000458139.1:n.*1100G>T
ENST00000566612.5:c.*674G>T ENSP00000454782.1:n.*674G>T
ENST00000611625.4:c.2497G>T ENSP00000481063.1:p.Asp833Tyr
ENST00000612417.4:c.1853+3238G>T ENSP00000478360.1:n.1853+3238G>T
ENST00000621016.4:c.1866-4411G>T ENSP00000480664.1:n.1866-4411G>T
NM_004360.3:c.2434G>T , LRG_301t1:c.2434G>T NP_004351.1:p.Asp812Tyr
XM_011523488.1:c.1699G>T XP_011521790.1:p.Asp567Tyr
XM_011523489.1:c.1699G>T XP_011521791.1:p.Asp567Tyr
NM_001317184.1:c.2251G>T NP_001304113.1:p.Asp751Tyr
NM_001317185.1:c.886G>T NP_001304114.1:p.Asp296Tyr
NM_001317186.1:c.469G>T NP_001304115.1:p.Asp157Tyr
NM_004360.4:c.2434G>T NP_004351.1:p.Asp812Tyr
NM_004360.5:c.2434G>T MANE Select NP_004351.1:p.Asp812Tyr
NM_001317184.2:c.2251G>T NP_001304113.1:p.Asp751Tyr
NM_001317185.2:c.886G>T NP_001304114.1:p.Asp296Tyr
NM_001317186.2:c.469G>T NP_001304115.1:p.Asp157Tyr
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