Canonical Allele Identifier: CA10580158

Gene: CDH1

Linked Data

• ClinVar Variation Id: 232727
• ClinVar RCV Id: RCV001853599 ; RCV003114390 ; RCV003441802
• dbSNP Id: rs876659951
• gnomAD v4: 16-68829691-C-T
• MyVariant Identifiers: chr16:g.68863594C>T (hg19) ; chr16:g.68829691C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829691C>T , CM000678.2:g.68829691C>T	GRCh38
NC_000016.9:g.68863594C>T , CM000678.1:g.68863594C>T	GRCh37
NC_000016.8:g.67421095C>T	NCBI36
NG_008021.1:g.97400C>T , LRG_301:g.97400C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2333C>T MANE Select	ENSP00000261769.4:p.Ala778Val
ENST00000261769.9:c.2333C>T	ENSP00000261769.4:p.Ala778Val
ENST00000422392.6:c.2150C>T	ENSP00000414946.2:p.Ala717Val
ENST00000562118.1:n.551C>T
ENST00000562836.5:n.2404C>T
ENST00000566510.5:c.*999C>T	ENSP00000458139.1:n.*999C>T
ENST00000566612.5:c.*573C>T	ENSP00000454782.1:n.*573C>T
ENST00000611625.4:c.2396C>T	ENSP00000481063.1:p.Ala799Val
ENST00000612417.4:c.1853+3137C>T	ENSP00000478360.1:n.1853+3137C>T
ENST00000621016.4:c.1866-4512C>T	ENSP00000480664.1:n.1866-4512C>T
NM_004360.3:c.2333C>T , LRG_301t1:c.2333C>T	NP_004351.1:p.Ala778Val
XM_011523488.1:c.1598C>T	XP_011521790.1:p.Ala533Val
XM_011523489.1:c.1598C>T	XP_011521791.1:p.Ala533Val
NM_001317184.1:c.2150C>T	NP_001304113.1:p.Ala717Val
NM_001317185.1:c.785C>T	NP_001304114.1:p.Ala262Val
NM_001317186.1:c.368C>T	NP_001304115.1:p.Ala123Val
NM_004360.4:c.2333C>T	NP_004351.1:p.Ala778Val
NM_004360.5:c.2333C>T MANE Select	NP_004351.1:p.Ala778Val
NM_001317184.2:c.2150C>T	NP_001304113.1:p.Ala717Val
NM_001317185.2:c.785C>T	NP_001304114.1:p.Ala262Val
NM_001317186.2:c.368C>T	NP_001304115.1:p.Ala123Val