Canonical Allele Identifier: CA396471978
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs1223994260
MyVariant Identifiers: chr16:g.68867205G>C (hg19) chr16:g.68833302G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833302G>C , CM000678.2:g.68833302G>C GRCh38
NC_000016.9:g.68867205G>C , CM000678.1:g.68867205G>C GRCh37
NC_000016.8:g.67424706G>C NCBI36
NG_008021.1:g.101011G>C , LRG_301:g.101011G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2452G>C MANE Select ENSP00000261769.4:p.Ala818Pro
ENST00000261769.9:c.2452G>C ENSP00000261769.4:p.Ala818Pro
ENST00000422392.6:c.2269G>C ENSP00000414946.2:p.Ala757Pro
ENST00000562118.1:n.670G>C
ENST00000562836.5:n.2523G>C
ENST00000566510.5:c.*1118G>C ENSP00000458139.1:n.*1118G>C
ENST00000566612.5:c.*692G>C ENSP00000454782.1:n.*692G>C
ENST00000611625.4:c.2515G>C ENSP00000481063.1:p.Ala839Pro
ENST00000612417.4:c.1854-889G>C ENSP00000478360.1:n.1854-889G>C
ENST00000621016.4:c.1866-901G>C ENSP00000480664.1:n.1866-901G>C
NM_004360.3:c.2452G>C , LRG_301t1:c.2452G>C NP_004351.1:p.Ala818Pro
XM_011523488.1:c.1717G>C XP_011521790.1:p.Ala573Pro
XM_011523489.1:c.1717G>C XP_011521791.1:p.Ala573Pro
NM_001317184.1:c.2269G>C NP_001304113.1:p.Ala757Pro
NM_001317185.1:c.904G>C NP_001304114.1:p.Ala302Pro
NM_001317186.1:c.487G>C NP_001304115.1:p.Ala163Pro
NM_004360.4:c.2452G>C NP_004351.1:p.Ala818Pro
NM_004360.5:c.2452G>C MANE Select NP_004351.1:p.Ala818Pro
NM_001317184.2:c.2269G>C NP_001304113.1:p.Ala757Pro
NM_001317185.2:c.904G>C NP_001304114.1:p.Ala302Pro
NM_001317186.2:c.487G>C NP_001304115.1:p.Ala163Pro
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