Canonical Allele Identifier: CA396472136
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs2152143928
MyVariant Identifiers: chr16:g.68867244C>T (hg19) chr16:g.68833341C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833341C>T , CM000678.2:g.68833341C>T GRCh38
NC_000016.9:g.68867244C>T , CM000678.1:g.68867244C>T GRCh37
NC_000016.8:g.67424745C>T NCBI36
NG_008021.1:g.101050C>T , LRG_301:g.101050C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2491C>T MANE Select ENSP00000261769.4:p.Leu831Phe
ENST00000261769.9:c.2491C>T ENSP00000261769.4:p.Leu831Phe
ENST00000422392.6:c.2308C>T ENSP00000414946.2:p.Leu770Phe
ENST00000562118.1:n.709C>T
ENST00000562836.5:n.2562C>T
ENST00000566510.5:c.*1157C>T ENSP00000458139.1:n.*1157C>T
ENST00000566612.5:c.*731C>T ENSP00000454782.1:n.*731C>T
ENST00000611625.4:c.2554C>T ENSP00000481063.1:p.Leu852Phe
ENST00000612417.4:c.1854-850C>T ENSP00000478360.1:n.1854-850C>T
ENST00000621016.4:c.1866-862C>T ENSP00000480664.1:n.1866-862C>T
NM_004360.3:c.2491C>T , LRG_301t1:c.2491C>T NP_004351.1:p.Leu831Phe
XM_011523488.1:c.1756C>T XP_011521790.1:p.Leu586Phe
XM_011523489.1:c.1756C>T XP_011521791.1:p.Leu586Phe
NM_001317184.1:c.2308C>T NP_001304113.1:p.Leu770Phe
NM_001317185.1:c.943C>T NP_001304114.1:p.Leu315Phe
NM_001317186.1:c.526C>T NP_001304115.1:p.Leu176Phe
NM_004360.4:c.2491C>T NP_004351.1:p.Leu831Phe
NM_004360.5:c.2491C>T MANE Select NP_004351.1:p.Leu831Phe
NM_001317184.2:c.2308C>T NP_001304113.1:p.Leu770Phe
NM_001317185.2:c.943C>T NP_001304114.1:p.Leu315Phe
NM_001317186.2:c.526C>T NP_001304115.1:p.Leu176Phe
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