Canonical Allele Identifier: CA396465330
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs1555516566
gnomAD v4: 16-68819389-A-G
MyVariant Identifiers: chr16:g.68853292A>G (hg19) chr16:g.68819389A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819389A>G , CM000678.2:g.68819389A>G GRCh38
NC_000016.9:g.68853292A>G , CM000678.1:g.68853292A>G GRCh37
NC_000016.8:g.67410793A>G NCBI36
NG_008021.1:g.87098A>G , LRG_301:g.87098A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1675A>G MANE Select ENSP00000261769.4:p.Ser559Gly
ENST00000261769.9:c.1675A>G ENSP00000261769.4:p.Ser559Gly
ENST00000422392.6:c.1492A>G ENSP00000414946.2:p.Ser498Gly
ENST00000562836.5:n.1746A>G
ENST00000566510.5:c.*341A>G ENSP00000458139.1:n.*341A>G
ENST00000566612.5:c.1566-2612A>G ENSP00000454782.1:n.1566-2612A>G
ENST00000611625.4:c.1738A>G ENSP00000481063.1:p.Ser580Gly
ENST00000612417.4:c.1675A>G ENSP00000478360.1:p.Ser559Gly
ENST00000621016.4:c.1675A>G ENSP00000480664.1:p.Ser559Gly
NM_004360.3:c.1675A>G , LRG_301t1:c.1675A>G NP_004351.1:p.Ser559Gly
XM_011523488.1:c.940A>G XP_011521790.1:p.Ser314Gly
XM_011523489.1:c.940A>G XP_011521791.1:p.Ser314Gly
NM_001317184.1:c.1492A>G NP_001304113.1:p.Ser498Gly
NM_001317185.1:c.127A>G NP_001304114.1:p.Ser43Gly
NM_001317186.1:c.-254-2612A>G NP_001304115.1:n.-254-2612A>G
NM_004360.4:c.1675A>G NP_004351.1:p.Ser559Gly
NM_004360.5:c.1675A>G MANE Select NP_004351.1:p.Ser559Gly
NM_001317184.2:c.1492A>G NP_001304113.1:p.Ser498Gly
NM_001317185.2:c.127A>G NP_001304114.1:p.Ser43Gly
NM_001317186.2:c.-254-2612A>G NP_001304115.1:n.-254-2612A>G
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