Canonical Allele Identifier: CA10577544

Gene: CDH1

Linked Data

• ClinVar Variation Id: 234528
• ClinVar RCV Id: RCV000216744 ; RCV000539949 ; RCV000570338
• dbSNP Id: rs876661065
• gnomAD v2: 16-68849590-A-C
• gnomAD v3: 16-68815687-A-C
• gnomAD v4: 16-68815687-A-C
• MyVariant Identifiers: chr16:g.68849590A>C (hg19) ; chr16:g.68815687A>C (hg38)
• ERepo: CA10577544/MONDO:0007648/007 ; CA10577544/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815687A>C , CM000678.2:g.68815687A>C	GRCh38
NC_000016.9:g.68849590A>C , CM000678.1:g.68849590A>C	GRCh37
NC_000016.8:g.67407091A>C	NCBI36
NG_008021.1:g.83396A>C , LRG_301:g.83396A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1493A>C MANE Select	ENSP00000261769.4:p.Asp498Ala
ENST00000261769.9:c.1493A>C	ENSP00000261769.4:p.Asp498Ala
ENST00000422392.6:c.1310A>C	ENSP00000414946.2:p.Asp437Ala
ENST00000562836.5:n.1564A>C
ENST00000566510.5:c.*159A>C	ENSP00000458139.1:n.*159A>C
ENST00000566612.5:c.1493A>C	ENSP00000454782.1:p.Asp498Ala
ENST00000611625.4:c.1556A>C	ENSP00000481063.1:p.Asp519Ala
ENST00000612417.4:c.1493A>C	ENSP00000478360.1:p.Asp498Ala
ENST00000621016.4:c.1493A>C	ENSP00000480664.1:p.Asp498Ala
NM_004360.3:c.1493A>C , LRG_301t1:c.1493A>C	NP_004351.1:p.Asp498Ala
XM_011523488.1:c.758A>C	XP_011521790.1:p.Asp253Ala
XM_011523489.1:c.758A>C	XP_011521791.1:p.Asp253Ala
NM_001317184.1:c.1310A>C	NP_001304113.1:p.Asp437Ala
NM_001317185.1:c.-56A>C	NP_001304114.1:n.-56A>C
NM_001317186.1:c.-327A>C	NP_001304115.1:n.-327A>C
NM_004360.4:c.1493A>C	NP_004351.1:p.Asp498Ala
NM_004360.5:c.1493A>C MANE Select	NP_004351.1:p.Asp498Ala
NM_001317184.2:c.1310A>C	NP_001304113.1:p.Asp437Ala
NM_001317185.2:c.-56A>C	NP_001304114.1:n.-56A>C
NM_001317186.2:c.-327A>C	NP_001304115.1:n.-327A>C