Canonical Allele Identifier: CA8130074

Gene: CDH1

Linked Data

• dbSNP Id: rs776588895
• ExAC: 16:68849490 T / C
• gnomAD v2: 16-68849490-T-C
• gnomAD v4: 16-68815587-T-C
• MyVariant Identifiers: chr16:g.68849490T>C (hg19) ; chr16:g.68815587T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815587T>C , CM000678.2:g.68815587T>C	GRCh38
NC_000016.9:g.68849490T>C , CM000678.1:g.68849490T>C	GRCh37
NC_000016.8:g.67406991T>C	NCBI36
NG_008021.1:g.83296T>C , LRG_301:g.83296T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1393T>C MANE Select	ENSP00000261769.4:p.Ser465Pro
ENST00000261769.9:c.1393T>C	ENSP00000261769.4:p.Ser465Pro
ENST00000422392.6:c.1210T>C	ENSP00000414946.2:p.Ser404Pro
ENST00000562836.5:n.1464T>C
ENST00000566510.5:c.*59T>C	ENSP00000458139.1:n.*59T>C
ENST00000566612.5:c.1393T>C	ENSP00000454782.1:p.Ser465Pro
ENST00000611625.4:c.1456T>C	ENSP00000481063.1:p.Ser486Pro
ENST00000612417.4:c.1393T>C	ENSP00000478360.1:p.Ser465Pro
ENST00000621016.4:c.1393T>C	ENSP00000480664.1:p.Ser465Pro
NM_004360.3:c.1393T>C , LRG_301t1:c.1393T>C	NP_004351.1:p.Ser465Pro
XM_011523488.1:c.658T>C	XP_011521790.1:p.Ser220Pro
XM_011523489.1:c.658T>C	XP_011521791.1:p.Ser220Pro
NM_001317184.1:c.1210T>C	NP_001304113.1:p.Ser404Pro
NM_001317185.1:c.-156T>C	NP_001304114.1:n.-156T>C
NM_001317186.1:c.-427T>C	NP_001304115.1:n.-427T>C
NM_004360.4:c.1393T>C	NP_004351.1:p.Ser465Pro
NM_004360.5:c.1393T>C MANE Select	NP_004351.1:p.Ser465Pro
NM_001317184.2:c.1210T>C	NP_001304113.1:p.Ser404Pro
NM_001317185.2:c.-156T>C	NP_001304114.1:n.-156T>C
NM_001317186.2:c.-427T>C	NP_001304115.1:n.-427T>C