Canonical Allele Identifier: CA396472598
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1474312
ClinVar RCV Id: RCV001971174
dbSNP Id: rs115817750
MyVariant Identifiers: chr16:g.68867342C>G (hg19) chr16:g.68833439C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833439C>G , CM000678.2:g.68833439C>G GRCh38
NC_000016.9:g.68867342C>G , CM000678.1:g.68867342C>G GRCh37
NC_000016.8:g.67424843C>G NCBI36
NG_008021.1:g.101148C>G , LRG_301:g.101148C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2589C>G MANE Select ENSP00000261769.4:p.Asn863Lys
ENST00000261769.9:c.2589C>G ENSP00000261769.4:p.Asn863Lys
ENST00000422392.6:c.2406C>G ENSP00000414946.2:p.Asn802Lys
ENST00000562118.1:n.807C>G
ENST00000562836.5:n.2660C>G
ENST00000566510.5:c.*1255C>G ENSP00000458139.1:n.*1255C>G
ENST00000566612.5:c.*829C>G ENSP00000454782.1:n.*829C>G
ENST00000611625.4:c.2652C>G ENSP00000481063.1:p.Asn884Lys
ENST00000612417.4:c.1854-752C>G ENSP00000478360.1:n.1854-752C>G
ENST00000621016.4:c.1866-764C>G ENSP00000480664.1:n.1866-764C>G
NM_004360.3:c.2589C>G , LRG_301t1:c.2589C>G NP_004351.1:p.Asn863Lys
XM_011523488.1:c.1854C>G XP_011521790.1:p.Asn618Lys
XM_011523489.1:c.1854C>G XP_011521791.1:p.Asn618Lys
NM_001317184.1:c.2406C>G NP_001304113.1:p.Asn802Lys
NM_001317185.1:c.1041C>G NP_001304114.1:p.Asn347Lys
NM_001317186.1:c.624C>G NP_001304115.1:p.Asn208Lys
NM_004360.4:c.2589C>G NP_004351.1:p.Asn863Lys
NM_004360.5:c.2589C>G MANE Select NP_004351.1:p.Asn863Lys
NM_001317184.2:c.2406C>G NP_001304113.1:p.Asn802Lys
NM_001317185.2:c.1041C>G NP_001304114.1:p.Asn347Lys
NM_001317186.2:c.624C>G NP_001304115.1:p.Asn208Lys
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