Canonical Allele Identifier: CA396457464
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2998991
ClinVar RCV Id: RCV003859638
COSMIC: COSM19507
MyVariant Identifiers: chr16:g.68835771A>G (hg19) chr16:g.68801868A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801868A>G , CM000678.2:g.68801868A>G GRCh38
NC_000016.9:g.68835771A>G , CM000678.1:g.68835771A>G GRCh37
NC_000016.8:g.67393272A>G NCBI36
NG_008021.1:g.69577A>G , LRG_301:g.69577A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.362A>G MANE Select ENSP00000261769.4:p.His121Arg
ENST00000261769.9:c.362A>G ENSP00000261769.4:p.His121Arg
ENST00000422392.6:c.362A>G ENSP00000414946.2:p.His121Arg
ENST00000561751.1:c.129A>G
ENST00000562836.5:n.433A>G
ENST00000564676.5:n.644A>G
ENST00000564745.1:n.357A>G
ENST00000566510.5:c.362A>G ENSP00000458139.1:p.His121Arg
ENST00000566612.5:c.362A>G ENSP00000454782.1:p.His121Arg
ENST00000611625.4:c.362A>G ENSP00000481063.1:p.His121Arg
ENST00000612417.4:c.362A>G ENSP00000478360.1:p.His121Arg
ENST00000621016.4:c.362A>G ENSP00000480664.1:p.His121Arg
NM_004360.3:c.362A>G , LRG_301t1:c.362A>G NP_004351.1:p.His121Arg
XM_011523488.1:c.-374A>G XP_011521790.1:n.-374A>G
XM_011523489.1:c.-374A>G XP_011521791.1:n.-374A>G
NM_001317184.1:c.362A>G NP_001304113.1:p.His121Arg
NM_001317185.1:c.-1254A>G NP_001304114.1:n.-1254A>G
NM_001317186.1:c.-1458A>G NP_001304115.1:n.-1458A>G
NM_004360.4:c.362A>G NP_004351.1:p.His121Arg
NM_004360.5:c.362A>G MANE Select NP_004351.1:p.His121Arg
NM_001317184.2:c.362A>G NP_001304113.1:p.His121Arg
NM_001317185.2:c.-1254A>G NP_001304114.1:n.-1254A>G
NM_001317186.2:c.-1458A>G NP_001304115.1:n.-1458A>G
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