Canonical Allele Identifier: CA396451753

Gene: CDH1

Linked Data

• ClinVar Variation Id: 827086
• ClinVar RCV Id: RCV001026504 ; RCV001230187
• dbSNP Id: rs1485238301
• gnomAD v2: 16-68772225-C-T
• gnomAD v4: 16-68738322-C-T
• MyVariant Identifiers: chr16:g.68772225C>T (hg19) ; chr16:g.68738322C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68738322C>T , CM000678.2:g.68738322C>T	GRCh38
NC_000016.9:g.68772225C>T , CM000678.1:g.68772225C>T	GRCh37
NC_000016.8:g.67329726C>T	NCBI36
NG_008021.1:g.6031C>T , LRG_301:g.6031C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.74C>T MANE Select	ENSP00000261769.4:p.Pro25Leu
ENST00000261769.9:c.74C>T	ENSP00000261769.4:p.Pro25Leu
ENST00000422392.6:c.74C>T	ENSP00000414946.2:p.Pro25Leu
ENST00000566510.5:c.74C>T	ENSP00000458139.1:p.Pro25Leu
ENST00000566612.5:c.74C>T	ENSP00000454782.1:p.Pro25Leu
ENST00000611625.4:c.74C>T	ENSP00000481063.1:p.Pro25Leu
ENST00000612417.4:c.74C>T	ENSP00000478360.1:p.Pro25Leu
ENST00000621016.4:c.74C>T	ENSP00000480664.1:p.Pro25Leu
NM_004360.3:c.74C>T , LRG_301t1:c.74C>T	NP_004351.1:p.Pro25Leu
NM_001317184.1:c.74C>T	NP_001304113.1:p.Pro25Leu
NM_001317185.1:c.-1542C>T	NP_001304114.1:n.-1542C>T
NM_001317186.1:c.-1746C>T	NP_001304115.1:n.-1746C>T
NM_004360.4:c.74C>T	NP_004351.1:p.Pro25Leu
NM_004360.5:c.74C>T MANE Select	NP_004351.1:p.Pro25Leu
NM_001317184.2:c.74C>T	NP_001304113.1:p.Pro25Leu
NM_001317185.2:c.-1542C>T	NP_001304114.1:n.-1542C>T
NM_001317186.2:c.-1746C>T	NP_001304115.1:n.-1746C>T