Canonical Allele Identifier: CA396471288
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1062960
ClinVar RCV Id: RCV001372741
dbSNP Id: rs2152142446
MyVariant Identifiers: chr16:g.68863678A>G (hg19) chr16:g.68829775A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829775A>G , CM000678.2:g.68829775A>G GRCh38
NC_000016.9:g.68863678A>G , CM000678.1:g.68863678A>G GRCh37
NC_000016.8:g.67421179A>G NCBI36
NG_008021.1:g.97484A>G , LRG_301:g.97484A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2417A>G MANE Select ENSP00000261769.4:p.Glu806Gly
ENST00000261769.9:c.2417A>G ENSP00000261769.4:p.Glu806Gly
ENST00000422392.6:c.2234A>G ENSP00000414946.2:p.Glu745Gly
ENST00000562118.1:n.635A>G
ENST00000562836.5:n.2488A>G
ENST00000566510.5:c.*1083A>G ENSP00000458139.1:n.*1083A>G
ENST00000566612.5:c.*657A>G ENSP00000454782.1:n.*657A>G
ENST00000611625.4:c.2480A>G ENSP00000481063.1:p.Glu827Gly
ENST00000612417.4:c.1853+3221A>G ENSP00000478360.1:n.1853+3221A>G
ENST00000621016.4:c.1866-4428A>G ENSP00000480664.1:n.1866-4428A>G
NM_004360.3:c.2417A>G , LRG_301t1:c.2417A>G NP_004351.1:p.Glu806Gly
XM_011523488.1:c.1682A>G XP_011521790.1:p.Glu561Gly
XM_011523489.1:c.1682A>G XP_011521791.1:p.Glu561Gly
NM_001317184.1:c.2234A>G NP_001304113.1:p.Glu745Gly
NM_001317185.1:c.869A>G NP_001304114.1:p.Glu290Gly
NM_001317186.1:c.452A>G NP_001304115.1:p.Glu151Gly
NM_004360.4:c.2417A>G NP_004351.1:p.Glu806Gly
NM_004360.5:c.2417A>G MANE Select NP_004351.1:p.Glu806Gly
NM_001317184.2:c.2234A>G NP_001304113.1:p.Glu745Gly
NM_001317185.2:c.869A>G NP_001304114.1:p.Glu290Gly
NM_001317186.2:c.452A>G NP_001304115.1:p.Glu151Gly
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