Canonical Allele Identifier: CA496393080
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 510966
ClinVar RCV Id: RCV000607640 RCV001805209
dbSNP Id: rs1555518241
gnomAD v4: 16-68833358-A-G
MyVariant Identifiers: chr16:g.68867261A>G (hg19) chr16:g.68833358A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833358A>G , CM000678.2:g.68833358A>G GRCh38
NC_000016.9:g.68867261A>G , CM000678.1:g.68867261A>G GRCh37
NC_000016.8:g.67424762A>G NCBI36
NG_008021.1:g.101067A>G , LRG_301:g.101067A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2508A>G MANE Select ENSP00000261769.4:p.Glu836=
ENST00000261769.9:c.2508A>G ENSP00000261769.4:p.Glu836=
ENST00000422392.6:c.2325A>G ENSP00000414946.2:p.Glu775=
ENST00000562118.1:n.726A>G
ENST00000562836.5:n.2579A>G
ENST00000566510.5:c.*1174A>G ENSP00000458139.1:n.*1174A>G
ENST00000566612.5:c.*748A>G ENSP00000454782.1:n.*748A>G
ENST00000611625.4:c.2571A>G ENSP00000481063.1:p.Glu857=
ENST00000612417.4:c.1854-833A>G ENSP00000478360.1:n.1854-833A>G
ENST00000621016.4:c.1866-845A>G ENSP00000480664.1:n.1866-845A>G
NM_004360.3:c.2508A>G , LRG_301t1:c.2508A>G NP_004351.1:p.Glu836=
XM_011523488.1:c.1773A>G XP_011521790.1:p.Glu591=
XM_011523489.1:c.1773A>G XP_011521791.1:p.Glu591=
NM_001317184.1:c.2325A>G NP_001304113.1:p.Glu775=
NM_001317185.1:c.960A>G NP_001304114.1:p.Glu320=
NM_001317186.1:c.543A>G NP_001304115.1:p.Glu181=
NM_004360.4:c.2508A>G NP_004351.1:p.Glu836=
NM_004360.5:c.2508A>G MANE Select NP_004351.1:p.Glu836=
NM_001317184.2:c.2325A>G NP_001304113.1:p.Glu775=
NM_001317185.2:c.960A>G NP_001304114.1:p.Glu320=
NM_001317186.2:c.543A>G NP_001304115.1:p.Glu181=
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