Canonical Allele Identifier: CA396471114
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1463335
ClinVar RCV Id: RCV001960992
dbSNP Id: rs2152142360
MyVariant Identifiers: chr16:g.68863638A>G (hg19) chr16:g.68829735A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829735A>G , CM000678.2:g.68829735A>G GRCh38
NC_000016.9:g.68863638A>G , CM000678.1:g.68863638A>G GRCh37
NC_000016.8:g.67421139A>G NCBI36
NG_008021.1:g.97444A>G , LRG_301:g.97444A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2377A>G MANE Select ENSP00000261769.4:p.Ser793Gly
ENST00000261769.9:c.2377A>G ENSP00000261769.4:p.Ser793Gly
ENST00000422392.6:c.2194A>G ENSP00000414946.2:p.Ser732Gly
ENST00000562118.1:n.595A>G
ENST00000562836.5:n.2448A>G
ENST00000566510.5:c.*1043A>G ENSP00000458139.1:n.*1043A>G
ENST00000566612.5:c.*617A>G ENSP00000454782.1:n.*617A>G
ENST00000611625.4:c.2440A>G ENSP00000481063.1:p.Ser814Gly
ENST00000612417.4:c.1853+3181A>G ENSP00000478360.1:n.1853+3181A>G
ENST00000621016.4:c.1866-4468A>G ENSP00000480664.1:n.1866-4468A>G
NM_004360.3:c.2377A>G , LRG_301t1:c.2377A>G NP_004351.1:p.Ser793Gly
XM_011523488.1:c.1642A>G XP_011521790.1:p.Ser548Gly
XM_011523489.1:c.1642A>G XP_011521791.1:p.Ser548Gly
NM_001317184.1:c.2194A>G NP_001304113.1:p.Ser732Gly
NM_001317185.1:c.829A>G NP_001304114.1:p.Ser277Gly
NM_001317186.1:c.412A>G NP_001304115.1:p.Ser138Gly
NM_004360.4:c.2377A>G NP_004351.1:p.Ser793Gly
NM_004360.5:c.2377A>G MANE Select NP_004351.1:p.Ser793Gly
NM_001317184.2:c.2194A>G NP_001304113.1:p.Ser732Gly
NM_001317185.2:c.829A>G NP_001304114.1:p.Ser277Gly
NM_001317186.2:c.412A>G NP_001304115.1:p.Ser138Gly
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