Canonical Allele Identifier: CA396466745

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1980253
• ClinVar RCV Id: RCV002780202 ; RCV003146620
• MyVariant Identifiers: chr16:g.68855997T>C (hg19) ; chr16:g.68822094T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822094T>C , CM000678.2:g.68822094T>C	GRCh38
NC_000016.9:g.68855997T>C , CM000678.1:g.68855997T>C	GRCh37
NC_000016.8:g.67413498T>C	NCBI36
NG_008021.1:g.89803T>C , LRG_301:g.89803T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1805T>C MANE Select	ENSP00000261769.4:p.Phe602Ser
ENST00000261769.9:c.1805T>C	ENSP00000261769.4:p.Phe602Ser
ENST00000422392.6:c.1622T>C	ENSP00000414946.2:p.Phe541Ser
ENST00000562836.5:n.1876T>C
ENST00000566510.5:c.*471T>C	ENSP00000458139.1:n.*471T>C
ENST00000566612.5:c.*45T>C	ENSP00000454782.1:n.*45T>C
ENST00000611625.4:c.1868T>C	ENSP00000481063.1:p.Phe623Ser
ENST00000612417.4:c.1805T>C	ENSP00000478360.1:p.Phe602Ser
ENST00000621016.4:c.1805T>C	ENSP00000480664.1:p.Phe602Ser
NM_004360.3:c.1805T>C , LRG_301t1:c.1805T>C	NP_004351.1:p.Phe602Ser
XM_011523488.1:c.1070T>C	XP_011521790.1:p.Phe357Ser
XM_011523489.1:c.1070T>C	XP_011521791.1:p.Phe357Ser
NM_001317184.1:c.1622T>C	NP_001304113.1:p.Phe541Ser
NM_001317185.1:c.257T>C	NP_001304114.1:p.Phe86Ser
NM_001317186.1:c.-161T>C	NP_001304115.1:n.-161T>C
NM_004360.4:c.1805T>C	NP_004351.1:p.Phe602Ser
NM_004360.5:c.1805T>C MANE Select	NP_004351.1:p.Phe602Ser
NM_001317184.2:c.1622T>C	NP_001304113.1:p.Phe541Ser
NM_001317185.2:c.257T>C	NP_001304114.1:p.Phe86Ser
NM_001317186.2:c.-161T>C	NP_001304115.1:n.-161T>C