Canonical Allele Identifier: CA396471955
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 647996
ClinVar RCV Id: RCV000802624
dbSNP Id: rs1596976107
MyVariant Identifiers: chr16:g.68867197T>G (hg19) chr16:g.68833294T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833294T>G , CM000678.2:g.68833294T>G GRCh38
NC_000016.9:g.68867197T>G , CM000678.1:g.68867197T>G GRCh37
NC_000016.8:g.67424698T>G NCBI36
NG_008021.1:g.101003T>G , LRG_301:g.101003T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2444T>G MANE Select ENSP00000261769.4:p.Leu815Arg
ENST00000261769.9:c.2444T>G ENSP00000261769.4:p.Leu815Arg
ENST00000422392.6:c.2261T>G ENSP00000414946.2:p.Leu754Arg
ENST00000562118.1:n.662T>G
ENST00000562836.5:n.2515T>G
ENST00000566510.5:c.*1110T>G ENSP00000458139.1:n.*1110T>G
ENST00000566612.5:c.*684T>G ENSP00000454782.1:n.*684T>G
ENST00000611625.4:c.2507T>G ENSP00000481063.1:p.Leu836Arg
ENST00000612417.4:c.1854-897T>G ENSP00000478360.1:n.1854-897T>G
ENST00000621016.4:c.1866-909T>G ENSP00000480664.1:n.1866-909T>G
NM_004360.3:c.2444T>G , LRG_301t1:c.2444T>G NP_004351.1:p.Leu815Arg
XM_011523488.1:c.1709T>G XP_011521790.1:p.Leu570Arg
XM_011523489.1:c.1709T>G XP_011521791.1:p.Leu570Arg
NM_001317184.1:c.2261T>G NP_001304113.1:p.Leu754Arg
NM_001317185.1:c.896T>G NP_001304114.1:p.Leu299Arg
NM_001317186.1:c.479T>G NP_001304115.1:p.Leu160Arg
NM_004360.4:c.2444T>G NP_004351.1:p.Leu815Arg
NM_004360.5:c.2444T>G MANE Select NP_004351.1:p.Leu815Arg
NM_001317184.2:c.2261T>G NP_001304113.1:p.Leu754Arg
NM_001317185.2:c.896T>G NP_001304114.1:p.Leu299Arg
NM_001317186.2:c.479T>G NP_001304115.1:p.Leu160Arg
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