Canonical Allele Identifier: CA396472339
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1792747
ClinVar RCV Id: RCV002433195
MyVariant Identifiers: chr16:g.68867287T>G (hg19) chr16:g.68833384T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833384T>G , CM000678.2:g.68833384T>G GRCh38
NC_000016.9:g.68867287T>G , CM000678.1:g.68867287T>G GRCh37
NC_000016.8:g.67424788T>G NCBI36
NG_008021.1:g.101093T>G , LRG_301:g.101093T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2534T>G MANE Select ENSP00000261769.4:p.Leu845Arg
ENST00000261769.9:c.2534T>G ENSP00000261769.4:p.Leu845Arg
ENST00000422392.6:c.2351T>G ENSP00000414946.2:p.Leu784Arg
ENST00000562118.1:n.752T>G
ENST00000562836.5:n.2605T>G
ENST00000566510.5:c.*1200T>G ENSP00000458139.1:n.*1200T>G
ENST00000566612.5:c.*774T>G ENSP00000454782.1:n.*774T>G
ENST00000611625.4:c.2597T>G ENSP00000481063.1:p.Leu866Arg
ENST00000612417.4:c.1854-807T>G ENSP00000478360.1:n.1854-807T>G
ENST00000621016.4:c.1866-819T>G ENSP00000480664.1:n.1866-819T>G
NM_004360.3:c.2534T>G , LRG_301t1:c.2534T>G NP_004351.1:p.Leu845Arg
XM_011523488.1:c.1799T>G XP_011521790.1:p.Leu600Arg
XM_011523489.1:c.1799T>G XP_011521791.1:p.Leu600Arg
NM_001317184.1:c.2351T>G NP_001304113.1:p.Leu784Arg
NM_001317185.1:c.986T>G NP_001304114.1:p.Leu329Arg
NM_001317186.1:c.569T>G NP_001304115.1:p.Leu190Arg
NM_004360.4:c.2534T>G NP_004351.1:p.Leu845Arg
NM_004360.5:c.2534T>G MANE Select NP_004351.1:p.Leu845Arg
NM_001317184.2:c.2351T>G NP_001304113.1:p.Leu784Arg
NM_001317185.2:c.986T>G NP_001304114.1:p.Leu329Arg
NM_001317186.2:c.569T>G NP_001304115.1:p.Leu190Arg
Search 100 bp 5'
Search 100 bp 3'