Canonical Allele Identifier: CA396452116
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 481692
ClinVar RCV Id: RCV000567291 RCV003328413 RCV000688401
dbSNP Id: rs786202465
gnomAD v4: 16-68738369-G-T
MyVariant Identifiers: chr16:g.68772272G>T (hg19) chr16:g.68738369G>T (hg38)
ERepo: CA396452116/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68738369G>T , CM000678.2:g.68738369G>T GRCh38
NC_000016.9:g.68772272G>T , CM000678.1:g.68772272G>T GRCh37
NC_000016.8:g.67329773G>T NCBI36
NG_008021.1:g.6078G>T , LRG_301:g.6078G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.121G>T MANE Select ENSP00000261769.4:p.Val41Leu
ENST00000261769.9:c.121G>T ENSP00000261769.4:p.Val41Leu
ENST00000422392.6:c.121G>T ENSP00000414946.2:p.Val41Leu
ENST00000566510.5:c.121G>T ENSP00000458139.1:p.Val41Leu
ENST00000566612.5:c.121G>T ENSP00000454782.1:p.Val41Leu
ENST00000611625.4:c.121G>T ENSP00000481063.1:p.Val41Leu
ENST00000612417.4:c.121G>T ENSP00000478360.1:p.Val41Leu
ENST00000621016.4:c.121G>T ENSP00000480664.1:p.Val41Leu
NM_004360.3:c.121G>T , LRG_301t1:c.121G>T NP_004351.1:p.Val41Leu
NM_001317184.1:c.121G>T NP_001304113.1:p.Val41Leu
NM_001317185.1:c.-1495G>T NP_001304114.1:n.-1495G>T
NM_001317186.1:c.-1699G>T NP_001304115.1:n.-1699G>T
NM_004360.4:c.121G>T NP_004351.1:p.Val41Leu
NM_004360.5:c.121G>T MANE Select NP_004351.1:p.Val41Leu
NM_001317184.2:c.121G>T NP_001304113.1:p.Val41Leu
NM_001317185.2:c.-1495G>T NP_001304114.1:n.-1495G>T
NM_001317186.2:c.-1699G>T NP_001304115.1:n.-1699G>T
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