Canonical Allele Identifier: CA283319642
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2503010
ClinVar RCV Id: RCV003229744
dbSNP Id: rs754851643
gnomAD v2: 16-68867141-A-G
gnomAD v3: 16-68833238-A-G
gnomAD v4: 16-68833238-A-G
MyVariant Identifiers: chr16:g.68867141A>G (hg19) chr16:g.68833238A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833238A>G , CM000678.2:g.68833238A>G GRCh38
NC_000016.9:g.68867141A>G , CM000678.1:g.68867141A>G GRCh37
NC_000016.8:g.67424642A>G NCBI36
NG_008021.1:g.100947A>G , LRG_301:g.100947A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2440-52A>G MANE Select ENSP00000261769.4:n.2440-52A>G
ENST00000261769.9:c.2440-52A>G ENSP00000261769.4:n.2440-52A>G
ENST00000422392.6:c.2257-52A>G ENSP00000414946.2:n.2257-52A>G
ENST00000562118.1:n.658-52A>G
ENST00000562836.5:n.2511-52A>G
ENST00000566510.5:c.*1106-52A>G ENSP00000458139.1:n.*1106-52A>G
ENST00000566612.5:c.*680-52A>G ENSP00000454782.1:n.*680-52A>G
ENST00000611625.4:c.2503-52A>G ENSP00000481063.1:n.2503-52A>G
ENST00000612417.4:c.1854-953A>G ENSP00000478360.1:n.1854-953A>G
ENST00000621016.4:c.1866-965A>G ENSP00000480664.1:n.1866-965A>G
NM_004360.3:c.2440-52A>G , LRG_301t1:c.2440-52A>G NP_004351.1:n.2440-52A>G
XM_011523488.1:c.1705-52A>G XP_011521790.1:n.1705-52A>G
XM_011523489.1:c.1705-52A>G XP_011521791.1:n.1705-52A>G
NM_001317184.1:c.2257-52A>G NP_001304113.1:n.2257-52A>G
NM_001317185.1:c.892-52A>G NP_001304114.1:n.892-52A>G
NM_001317186.1:c.475-52A>G NP_001304115.1:n.475-52A>G
NM_004360.4:c.2440-52A>G NP_004351.1:n.2440-52A>G
NM_004360.5:c.2440-52A>G MANE Select NP_004351.1:n.2440-52A>G
NM_001317184.2:c.2257-52A>G NP_001304113.1:n.2257-52A>G
NM_001317185.2:c.892-52A>G NP_001304114.1:n.892-52A>G
NM_001317186.2:c.475-52A>G NP_001304115.1:n.475-52A>G
Search 100 bp 5'
Search 100 bp 3'