Canonical Allele Identifier: CA396471944
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2700592
ClinVar RCV Id: RCV003512428
MyVariant Identifiers: chr16:g.68867194A>G (hg19) chr16:g.68833291A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833291A>G , CM000678.2:g.68833291A>G GRCh38
NC_000016.9:g.68867194A>G , CM000678.1:g.68867194A>G GRCh37
NC_000016.8:g.67424695A>G NCBI36
NG_008021.1:g.101000A>G , LRG_301:g.101000A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2441A>G MANE Select ENSP00000261769.4:p.Asn814Ser
ENST00000261769.9:c.2441A>G ENSP00000261769.4:p.Asn814Ser
ENST00000422392.6:c.2258A>G ENSP00000414946.2:p.Asn753Ser
ENST00000562118.1:n.659A>G
ENST00000562836.5:n.2512A>G
ENST00000566510.5:c.*1107A>G ENSP00000458139.1:n.*1107A>G
ENST00000566612.5:c.*681A>G ENSP00000454782.1:n.*681A>G
ENST00000611625.4:c.2504A>G ENSP00000481063.1:p.Asn835Ser
ENST00000612417.4:c.1854-900A>G ENSP00000478360.1:n.1854-900A>G
ENST00000621016.4:c.1866-912A>G ENSP00000480664.1:n.1866-912A>G
NM_004360.3:c.2441A>G , LRG_301t1:c.2441A>G NP_004351.1:p.Asn814Ser
XM_011523488.1:c.1706A>G XP_011521790.1:p.Asn569Ser
XM_011523489.1:c.1706A>G XP_011521791.1:p.Asn569Ser
NM_001317184.1:c.2258A>G NP_001304113.1:p.Asn753Ser
NM_001317185.1:c.893A>G NP_001304114.1:p.Asn298Ser
NM_001317186.1:c.476A>G NP_001304115.1:p.Asn159Ser
NM_004360.4:c.2441A>G NP_004351.1:p.Asn814Ser
NM_004360.5:c.2441A>G MANE Select NP_004351.1:p.Asn814Ser
NM_001317184.2:c.2258A>G NP_001304113.1:p.Asn753Ser
NM_001317185.2:c.893A>G NP_001304114.1:p.Asn298Ser
NM_001317186.2:c.476A>G NP_001304115.1:p.Asn159Ser
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