Canonical Allele Identifier: CA396472398
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3224178
ClinVar RCV Id: RCV004518904
dbSNP Id: rs2152144054
MyVariant Identifiers: chr16:g.68867301T>C (hg19) chr16:g.68833398T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833398T>C , CM000678.2:g.68833398T>C GRCh38
NC_000016.9:g.68867301T>C , CM000678.1:g.68867301T>C GRCh37
NC_000016.8:g.67424802T>C NCBI36
NG_008021.1:g.101107T>C , LRG_301:g.101107T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2548T>C MANE Select ENSP00000261769.4:p.Ser850Pro
ENST00000261769.9:c.2548T>C ENSP00000261769.4:p.Ser850Pro
ENST00000422392.6:c.2365T>C ENSP00000414946.2:p.Ser789Pro
ENST00000562118.1:n.766T>C
ENST00000562836.5:n.2619T>C
ENST00000566510.5:c.*1214T>C ENSP00000458139.1:n.*1214T>C
ENST00000566612.5:c.*788T>C ENSP00000454782.1:n.*788T>C
ENST00000611625.4:c.2611T>C ENSP00000481063.1:p.Ser871Pro
ENST00000612417.4:c.1854-793T>C ENSP00000478360.1:n.1854-793T>C
ENST00000621016.4:c.1866-805T>C ENSP00000480664.1:n.1866-805T>C
NM_004360.3:c.2548T>C , LRG_301t1:c.2548T>C NP_004351.1:p.Ser850Pro
XM_011523488.1:c.1813T>C XP_011521790.1:p.Ser605Pro
XM_011523489.1:c.1813T>C XP_011521791.1:p.Ser605Pro
NM_001317184.1:c.2365T>C NP_001304113.1:p.Ser789Pro
NM_001317185.1:c.1000T>C NP_001304114.1:p.Ser334Pro
NM_001317186.1:c.583T>C NP_001304115.1:p.Ser195Pro
NM_004360.4:c.2548T>C NP_004351.1:p.Ser850Pro
NM_004360.5:c.2548T>C MANE Select NP_004351.1:p.Ser850Pro
NM_001317184.2:c.2365T>C NP_001304113.1:p.Ser789Pro
NM_001317185.2:c.1000T>C NP_001304114.1:p.Ser334Pro
NM_001317186.2:c.583T>C NP_001304115.1:p.Ser195Pro
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