Canonical Allele Identifier: CA396471969
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2847525
ClinVar RCV Id: RCV003625784 RCV004371806
dbSNP Id: rs2152143844
MyVariant Identifiers: chr16:g.68867202G>C (hg19) chr16:g.68833299G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833299G>C , CM000678.2:g.68833299G>C GRCh38
NC_000016.9:g.68867202G>C , CM000678.1:g.68867202G>C GRCh37
NC_000016.8:g.67424703G>C NCBI36
NG_008021.1:g.101008G>C , LRG_301:g.101008G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2449G>C MANE Select ENSP00000261769.4:p.Ala817Pro
ENST00000261769.9:c.2449G>C ENSP00000261769.4:p.Ala817Pro
ENST00000422392.6:c.2266G>C ENSP00000414946.2:p.Ala756Pro
ENST00000562118.1:n.667G>C
ENST00000562836.5:n.2520G>C
ENST00000566510.5:c.*1115G>C ENSP00000458139.1:n.*1115G>C
ENST00000566612.5:c.*689G>C ENSP00000454782.1:n.*689G>C
ENST00000611625.4:c.2512G>C ENSP00000481063.1:p.Ala838Pro
ENST00000612417.4:c.1854-892G>C ENSP00000478360.1:n.1854-892G>C
ENST00000621016.4:c.1866-904G>C ENSP00000480664.1:n.1866-904G>C
NM_004360.3:c.2449G>C , LRG_301t1:c.2449G>C NP_004351.1:p.Ala817Pro
XM_011523488.1:c.1714G>C XP_011521790.1:p.Ala572Pro
XM_011523489.1:c.1714G>C XP_011521791.1:p.Ala572Pro
NM_001317184.1:c.2266G>C NP_001304113.1:p.Ala756Pro
NM_001317185.1:c.901G>C NP_001304114.1:p.Ala301Pro
NM_001317186.1:c.484G>C NP_001304115.1:p.Ala162Pro
NM_004360.4:c.2449G>C NP_004351.1:p.Ala817Pro
NM_004360.5:c.2449G>C MANE Select NP_004351.1:p.Ala817Pro
NM_001317184.2:c.2266G>C NP_001304113.1:p.Ala756Pro
NM_001317185.2:c.901G>C NP_001304114.1:p.Ala301Pro
NM_001317186.2:c.484G>C NP_001304115.1:p.Ala162Pro
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