Canonical Allele Identifier: CA396458568
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2084770
ClinVar RCV Id: RCV002994883 RCV004068445
dbSNP Id: rs1555515441
MyVariant Identifiers: chr16:g.68844159G>C (hg19) chr16:g.68810256G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810256G>C , CM000678.2:g.68810256G>C GRCh38
NC_000016.9:g.68844159G>C , CM000678.1:g.68844159G>C GRCh37
NC_000016.8:g.67401660G>C NCBI36
NG_008021.1:g.77965G>C , LRG_301:g.77965G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.747G>C MANE Select ENSP00000261769.4:p.Leu249Phe
ENST00000261769.9:c.747G>C ENSP00000261769.4:p.Leu249Phe
ENST00000422392.6:c.747G>C ENSP00000414946.2:p.Leu249Phe
ENST00000561751.1:c.454+1408G>C
ENST00000562836.5:n.818G>C
ENST00000566510.5:c.591G>C ENSP00000458139.1:p.Leu197Phe
ENST00000566612.5:c.747G>C ENSP00000454782.1:p.Leu249Phe
ENST00000611625.4:c.747G>C ENSP00000481063.1:p.Leu249Phe
ENST00000612417.4:c.747G>C ENSP00000478360.1:p.Leu249Phe
ENST00000621016.4:c.747G>C ENSP00000480664.1:p.Leu249Phe
NM_004360.3:c.747G>C , LRG_301t1:c.747G>C NP_004351.1:p.Leu249Phe
XM_011523488.1:c.12G>C XP_011521790.1:p.Leu4Phe
XM_011523489.1:c.12G>C XP_011521791.1:p.Leu4Phe
NM_001317184.1:c.747G>C NP_001304113.1:p.Leu249Phe
NM_001317185.1:c.-869G>C NP_001304114.1:n.-869G>C
NM_001317186.1:c.-1073G>C NP_001304115.1:n.-1073G>C
NM_004360.4:c.747G>C NP_004351.1:p.Leu249Phe
NM_004360.5:c.747G>C MANE Select NP_004351.1:p.Leu249Phe
NM_001317184.2:c.747G>C NP_001304113.1:p.Leu249Phe
NM_001317185.2:c.-869G>C NP_001304114.1:n.-869G>C
NM_001317186.2:c.-1073G>C NP_001304115.1:n.-1073G>C
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