Canonical Allele Identifier: CA396470747

Gene: CDH1

Linked Data

• MyVariant Identifiers: chr16:g.68863560T>C (hg19) ; chr16:g.68829657T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829657T>C , CM000678.2:g.68829657T>C	GRCh38
NC_000016.9:g.68863560T>C , CM000678.1:g.68863560T>C	GRCh37
NC_000016.8:g.67421061T>C	NCBI36
NG_008021.1:g.97366T>C , LRG_301:g.97366T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2299T>C MANE Select	ENSP00000261769.4:p.Phe767Leu
ENST00000261769.9:c.2299T>C	ENSP00000261769.4:p.Phe767Leu
ENST00000422392.6:c.2116T>C	ENSP00000414946.2:p.Phe706Leu
ENST00000562118.1:n.517T>C
ENST00000562836.5:n.2370T>C
ENST00000566510.5:c.*965T>C	ENSP00000458139.1:n.*965T>C
ENST00000566612.5:c.*539T>C	ENSP00000454782.1:n.*539T>C
ENST00000611625.4:c.2362T>C	ENSP00000481063.1:p.Phe788Leu
ENST00000612417.4:c.1853+3103T>C	ENSP00000478360.1:n.1853+3103T>C
ENST00000621016.4:c.1866-4546T>C	ENSP00000480664.1:n.1866-4546T>C
NM_004360.3:c.2299T>C , LRG_301t1:c.2299T>C	NP_004351.1:p.Phe767Leu
XM_011523488.1:c.1564T>C	XP_011521790.1:p.Phe522Leu
XM_011523489.1:c.1564T>C	XP_011521791.1:p.Phe522Leu
NM_001317184.1:c.2116T>C	NP_001304113.1:p.Phe706Leu
NM_001317185.1:c.751T>C	NP_001304114.1:p.Phe251Leu
NM_001317186.1:c.334T>C	NP_001304115.1:p.Phe112Leu
NM_004360.4:c.2299T>C	NP_004351.1:p.Phe767Leu
NM_004360.5:c.2299T>C MANE Select	NP_004351.1:p.Phe767Leu
NM_001317184.2:c.2116T>C	NP_001304113.1:p.Phe706Leu
NM_001317185.2:c.751T>C	NP_001304114.1:p.Phe251Leu
NM_001317186.2:c.334T>C	NP_001304115.1:p.Phe112Leu