Canonical Allele Identifier: CA396472573
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1049244
ClinVar RCV Id: RCV001355114 RCV002456532
dbSNP Id: rs2152144131
gnomAD v4: 16-68833434-T-G
MyVariant Identifiers: chr16:g.68867337T>G (hg19) chr16:g.68833434T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833434T>G , CM000678.2:g.68833434T>G GRCh38
NC_000016.9:g.68867337T>G , CM000678.1:g.68867337T>G GRCh37
NC_000016.8:g.67424838T>G NCBI36
NG_008021.1:g.101143T>G , LRG_301:g.101143T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2584T>G MANE Select ENSP00000261769.4:p.Leu862Val
ENST00000261769.9:c.2584T>G ENSP00000261769.4:p.Leu862Val
ENST00000422392.6:c.2401T>G ENSP00000414946.2:p.Leu801Val
ENST00000562118.1:n.802T>G
ENST00000562836.5:n.2655T>G
ENST00000566510.5:c.*1250T>G ENSP00000458139.1:n.*1250T>G
ENST00000566612.5:c.*824T>G ENSP00000454782.1:n.*824T>G
ENST00000611625.4:c.2647T>G ENSP00000481063.1:p.Leu883Val
ENST00000612417.4:c.1854-757T>G ENSP00000478360.1:n.1854-757T>G
ENST00000621016.4:c.1866-769T>G ENSP00000480664.1:n.1866-769T>G
NM_004360.3:c.2584T>G , LRG_301t1:c.2584T>G NP_004351.1:p.Leu862Val
XM_011523488.1:c.1849T>G XP_011521790.1:p.Leu617Val
XM_011523489.1:c.1849T>G XP_011521791.1:p.Leu617Val
NM_001317184.1:c.2401T>G NP_001304113.1:p.Leu801Val
NM_001317185.1:c.1036T>G NP_001304114.1:p.Leu346Val
NM_001317186.1:c.619T>G NP_001304115.1:p.Leu207Val
NM_004360.4:c.2584T>G NP_004351.1:p.Leu862Val
NM_004360.5:c.2584T>G MANE Select NP_004351.1:p.Leu862Val
NM_001317184.2:c.2401T>G NP_001304113.1:p.Leu801Val
NM_001317185.2:c.1036T>G NP_001304114.1:p.Leu346Val
NM_001317186.2:c.619T>G NP_001304115.1:p.Leu207Val
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