Canonical Allele Identifier: CA396471004
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2116737
ClinVar RCV Id: RCV003035155
dbSNP Id: rs763203357
MyVariant Identifiers: chr16:g.68863612G>T (hg19) chr16:g.68829709G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829709G>T , CM000678.2:g.68829709G>T GRCh38
NC_000016.9:g.68863612G>T , CM000678.1:g.68863612G>T GRCh37
NC_000016.8:g.67421113G>T NCBI36
NG_008021.1:g.97418G>T , LRG_301:g.97418G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2351G>T MANE Select ENSP00000261769.4:p.Arg784Leu
ENST00000261769.9:c.2351G>T ENSP00000261769.4:p.Arg784Leu
ENST00000422392.6:c.2168G>T ENSP00000414946.2:p.Arg723Leu
ENST00000562118.1:n.569G>T
ENST00000562836.5:n.2422G>T
ENST00000566510.5:c.*1017G>T ENSP00000458139.1:n.*1017G>T
ENST00000566612.5:c.*591G>T ENSP00000454782.1:n.*591G>T
ENST00000611625.4:c.2414G>T ENSP00000481063.1:p.Arg805Leu
ENST00000612417.4:c.1853+3155G>T ENSP00000478360.1:n.1853+3155G>T
ENST00000621016.4:c.1866-4494G>T ENSP00000480664.1:n.1866-4494G>T
NM_004360.3:c.2351G>T , LRG_301t1:c.2351G>T NP_004351.1:p.Arg784Leu
XM_011523488.1:c.1616G>T XP_011521790.1:p.Arg539Leu
XM_011523489.1:c.1616G>T XP_011521791.1:p.Arg539Leu
NM_001317184.1:c.2168G>T NP_001304113.1:p.Arg723Leu
NM_001317185.1:c.803G>T NP_001304114.1:p.Arg268Leu
NM_001317186.1:c.386G>T NP_001304115.1:p.Arg129Leu
NM_004360.4:c.2351G>T NP_004351.1:p.Arg784Leu
NM_004360.5:c.2351G>T MANE Select NP_004351.1:p.Arg784Leu
NM_001317184.2:c.2168G>T NP_001304113.1:p.Arg723Leu
NM_001317185.2:c.803G>T NP_001304114.1:p.Arg268Leu
NM_001317186.2:c.386G>T NP_001304115.1:p.Arg129Leu
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