Canonical Allele Identifier: CA10638239
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 320268
ClinVar RCV Id: RCV000366339
dbSNP Id: rs886052237
gnomAD v3: 16-68833671-A-C
gnomAD v4: 16-68833671-A-C
MyVariant Identifiers: chr16:g.68867574A>C (hg19) chr16:g.68833671A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833671A>C , CM000678.2:g.68833671A>C GRCh38
NC_000016.9:g.68867574A>C , CM000678.1:g.68867574A>C GRCh37
NC_000016.8:g.67425075A>C NCBI36
NG_008021.1:g.101380A>C , LRG_301:g.101380A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.*172A>C MANE Select ENSP00000261769.4:n.*172A>C
ENST00000261769.9:c.*172A>C ENSP00000261769.4:n.*172A>C
ENST00000566612.5:c.*1061A>C ENSP00000454782.1:n.*1061A>C
ENST00000611625.4:c.*172A>C ENSP00000481063.1:n.*172A>C
ENST00000612417.4:c.1854-520A>C ENSP00000478360.1:n.1854-520A>C
ENST00000621016.4:c.1866-532A>C ENSP00000480664.1:n.1866-532A>C
NM_004360.3:c.*172A>C , LRG_301t1:c.*172A>C NP_004351.1:n.*172A>C
XM_011523488.1:c.*172A>C XP_011521790.1:n.*172A>C
XM_011523489.1:c.*172A>C XP_011521791.1:n.*172A>C
NM_001317184.1:c.*172A>C NP_001304113.1:n.*172A>C
NM_001317185.1:c.*172A>C NP_001304114.1:n.*172A>C
NM_001317186.1:c.*172A>C NP_001304115.1:n.*172A>C
NM_004360.4:c.*172A>C NP_004351.1:n.*172A>C
NM_004360.5:c.*172A>C MANE Select NP_004351.1:n.*172A>C
NM_001317184.2:c.*172A>C NP_001304113.1:n.*172A>C
NM_001317185.2:c.*172A>C NP_001304114.1:n.*172A>C
NM_001317186.2:c.*172A>C NP_001304115.1:n.*172A>C
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