Canonical Allele Identifier: CA396471042
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1517855
ClinVar RCV Id: RCV002021327 RCV002464512
dbSNP Id: rs766270336
MyVariant Identifiers: chr16:g.68863620G>T (hg19) chr16:g.68829717G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829717G>T , CM000678.2:g.68829717G>T GRCh38
NC_000016.9:g.68863620G>T , CM000678.1:g.68863620G>T GRCh37
NC_000016.8:g.67421121G>T NCBI36
NG_008021.1:g.97426G>T , LRG_301:g.97426G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2359G>T MANE Select ENSP00000261769.4:p.Val787Phe
ENST00000261769.9:c.2359G>T ENSP00000261769.4:p.Val787Phe
ENST00000422392.6:c.2176G>T ENSP00000414946.2:p.Val726Phe
ENST00000562118.1:n.577G>T
ENST00000562836.5:n.2430G>T
ENST00000566510.5:c.*1025G>T ENSP00000458139.1:n.*1025G>T
ENST00000566612.5:c.*599G>T ENSP00000454782.1:n.*599G>T
ENST00000611625.4:c.2422G>T ENSP00000481063.1:p.Val808Phe
ENST00000612417.4:c.1853+3163G>T ENSP00000478360.1:n.1853+3163G>T
ENST00000621016.4:c.1866-4486G>T ENSP00000480664.1:n.1866-4486G>T
NM_004360.3:c.2359G>T , LRG_301t1:c.2359G>T NP_004351.1:p.Val787Phe
XM_011523488.1:c.1624G>T XP_011521790.1:p.Val542Phe
XM_011523489.1:c.1624G>T XP_011521791.1:p.Val542Phe
NM_001317184.1:c.2176G>T NP_001304113.1:p.Val726Phe
NM_001317185.1:c.811G>T NP_001304114.1:p.Val271Phe
NM_001317186.1:c.394G>T NP_001304115.1:p.Val132Phe
NM_004360.4:c.2359G>T NP_004351.1:p.Val787Phe
NM_004360.5:c.2359G>T MANE Select NP_004351.1:p.Val787Phe
NM_001317184.2:c.2176G>T NP_001304113.1:p.Val726Phe
NM_001317185.2:c.811G>T NP_001304114.1:p.Val271Phe
NM_001317186.2:c.394G>T NP_001304115.1:p.Val132Phe
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