Canonical Allele Identifier: CA396458573
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 827077
ClinVar RCV Id: RCV001026489 RCV001036603
dbSNP Id: rs1597892398
gnomAD v4: 16-68810257-A-G
MyVariant Identifiers: chr16:g.68844160A>G (hg19) chr16:g.68810257A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810257A>G , CM000678.2:g.68810257A>G GRCh38
NC_000016.9:g.68844160A>G , CM000678.1:g.68844160A>G GRCh37
NC_000016.8:g.67401661A>G NCBI36
NG_008021.1:g.77966A>G , LRG_301:g.77966A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.748A>G MANE Select ENSP00000261769.4:p.Ile250Val
ENST00000261769.9:c.748A>G ENSP00000261769.4:p.Ile250Val
ENST00000422392.6:c.748A>G ENSP00000414946.2:p.Ile250Val
ENST00000561751.1:c.454+1409A>G
ENST00000562836.5:n.819A>G
ENST00000566510.5:c.592A>G ENSP00000458139.1:p.Ile198Val
ENST00000566612.5:c.748A>G ENSP00000454782.1:p.Ile250Val
ENST00000611625.4:c.748A>G ENSP00000481063.1:p.Ile250Val
ENST00000612417.4:c.748A>G ENSP00000478360.1:p.Ile250Val
ENST00000621016.4:c.748A>G ENSP00000480664.1:p.Ile250Val
NM_004360.3:c.748A>G , LRG_301t1:c.748A>G NP_004351.1:p.Ile250Val
XM_011523488.1:c.13A>G XP_011521790.1:p.Ile5Val
XM_011523489.1:c.13A>G XP_011521791.1:p.Ile5Val
NM_001317184.1:c.748A>G NP_001304113.1:p.Ile250Val
NM_001317185.1:c.-868A>G NP_001304114.1:n.-868A>G
NM_001317186.1:c.-1072A>G NP_001304115.1:n.-1072A>G
NM_004360.4:c.748A>G NP_004351.1:p.Ile250Val
NM_004360.5:c.748A>G MANE Select NP_004351.1:p.Ile250Val
NM_001317184.2:c.748A>G NP_001304113.1:p.Ile250Val
NM_001317185.2:c.-868A>G NP_001304114.1:n.-868A>G
NM_001317186.2:c.-1072A>G NP_001304115.1:n.-1072A>G
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