Canonical Allele Identifier: CA396471943
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs2152143827
gnomAD v4: 16-68833291-A-T
MyVariant Identifiers: chr16:g.68867194A>T (hg19) chr16:g.68833291A>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2441A>T MANE Select ENSP00000261769.4:p.Asn814Ile
ENST00000261769.9:c.2441A>T ENSP00000261769.4:p.Asn814Ile
ENST00000422392.6:c.2258A>T ENSP00000414946.2:p.Asn753Ile
ENST00000562118.1:n.659A>T
ENST00000562836.5:n.2512A>T
ENST00000566510.5:c.*1107A>T ENSP00000458139.1:n.*1107A>T
ENST00000566612.5:c.*681A>T ENSP00000454782.1:n.*681A>T
ENST00000611625.4:c.2504A>T ENSP00000481063.1:p.Asn835Ile
ENST00000612417.4:c.1854-900A>T ENSP00000478360.1:n.1854-900A>T
ENST00000621016.4:c.1866-912A>T ENSP00000480664.1:n.1866-912A>T
NM_004360.3:c.2441A>T , LRG_301t1:c.2441A>T NP_004351.1:p.Asn814Ile
XM_011523488.1:c.1706A>T XP_011521790.1:p.Asn569Ile
XM_011523489.1:c.1706A>T XP_011521791.1:p.Asn569Ile
NM_001317184.1:c.2258A>T NP_001304113.1:p.Asn753Ile
NM_001317185.1:c.893A>T NP_001304114.1:p.Asn298Ile
NM_001317186.1:c.476A>T NP_001304115.1:p.Asn159Ile
NM_004360.4:c.2441A>T NP_004351.1:p.Asn814Ile
NM_004360.5:c.2441A>T MANE Select NP_004351.1:p.Asn814Ile
NM_001317184.2:c.2258A>T NP_001304113.1:p.Asn753Ile
NM_001317185.2:c.893A>T NP_001304114.1:p.Asn298Ile
NM_001317186.2:c.476A>T NP_001304115.1:p.Asn159Ile
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