Canonical Allele Identifier: CA350357
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 219399
ClinVar RCV Id: RCV000206314 RCV002390540
dbSNP Id: rs864622070
gnomAD v4: 16-68819329-A-G
MyVariant Identifiers: chr16:g.68853232A>G (hg19) chr16:g.68819329A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819329A>G , CM000678.2:g.68819329A>G GRCh38
NC_000016.9:g.68853232A>G , CM000678.1:g.68853232A>G GRCh37
NC_000016.8:g.67410733A>G NCBI36
NG_008021.1:g.87038A>G , LRG_301:g.87038A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1615A>G MANE Select ENSP00000261769.4:p.Thr539Ala
ENST00000261769.9:c.1615A>G ENSP00000261769.4:p.Thr539Ala
ENST00000422392.6:c.1432A>G ENSP00000414946.2:p.Thr478Ala
ENST00000562836.5:n.1686A>G
ENST00000566510.5:c.*281A>G ENSP00000458139.1:n.*281A>G
ENST00000566612.5:c.1566-2672A>G ENSP00000454782.1:n.1566-2672A>G
ENST00000611625.4:c.1678A>G ENSP00000481063.1:p.Thr560Ala
ENST00000612417.4:c.1615A>G ENSP00000478360.1:p.Thr539Ala
ENST00000621016.4:c.1615A>G ENSP00000480664.1:p.Thr539Ala
NM_004360.3:c.1615A>G , LRG_301t1:c.1615A>G NP_004351.1:p.Thr539Ala
XM_011523488.1:c.880A>G XP_011521790.1:p.Thr294Ala
XM_011523489.1:c.880A>G XP_011521791.1:p.Thr294Ala
NM_001317184.1:c.1432A>G NP_001304113.1:p.Thr478Ala
NM_001317185.1:c.67A>G NP_001304114.1:p.Thr23Ala
NM_001317186.1:c.-254-2672A>G NP_001304115.1:n.-254-2672A>G
NM_004360.4:c.1615A>G NP_004351.1:p.Thr539Ala
NM_004360.5:c.1615A>G MANE Select NP_004351.1:p.Thr539Ala
NM_001317184.2:c.1432A>G NP_001304113.1:p.Thr478Ala
NM_001317185.2:c.67A>G NP_001304114.1:p.Thr23Ala
NM_001317186.2:c.-254-2672A>G NP_001304115.1:n.-254-2672A>G
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