Canonical Allele Identifier: CA396472802

Gene: CDH1

Linked Data

• ClinVar Variation Id: 489858
• ClinVar RCV Id: RCV000581138 ; RCV001568810 ; RCV001853873
• dbSNP Id: rs1555518287
• gnomAD v4: 16-68833473-A-G
• MyVariant Identifiers: chr16:g.68867376A>G (hg19) ; chr16:g.68833473A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833473A>G , CM000678.2:g.68833473A>G	GRCh38
NC_000016.9:g.68867376A>G , CM000678.1:g.68867376A>G	GRCh37
NC_000016.8:g.67424877A>G	NCBI36
NG_008021.1:g.101182A>G , LRG_301:g.101182A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2623A>G MANE Select	ENSP00000261769.4:p.Met875Val
ENST00000261769.9:c.2623A>G	ENSP00000261769.4:p.Met875Val
ENST00000422392.6:c.2440A>G	ENSP00000414946.2:p.Met814Val
ENST00000562118.1:n.841A>G
ENST00000562836.5:n.2694A>G
ENST00000566510.5:c.*1289A>G	ENSP00000458139.1:n.*1289A>G
ENST00000566612.5:c.*863A>G	ENSP00000454782.1:n.*863A>G
ENST00000611625.4:c.2686A>G	ENSP00000481063.1:p.Met896Val
ENST00000612417.4:c.1854-718A>G	ENSP00000478360.1:n.1854-718A>G
ENST00000621016.4:c.1866-730A>G	ENSP00000480664.1:n.1866-730A>G
NM_004360.3:c.2623A>G , LRG_301t1:c.2623A>G	NP_004351.1:p.Met875Val
XM_011523488.1:c.1888A>G	XP_011521790.1:p.Met630Val
XM_011523489.1:c.1888A>G	XP_011521791.1:p.Met630Val
NM_001317184.1:c.2440A>G	NP_001304113.1:p.Met814Val
NM_001317185.1:c.1075A>G	NP_001304114.1:p.Met359Val
NM_001317186.1:c.658A>G	NP_001304115.1:p.Met220Val
NM_004360.4:c.2623A>G	NP_004351.1:p.Met875Val
NM_004360.5:c.2623A>G MANE Select	NP_004351.1:p.Met875Val
NM_001317184.2:c.2440A>G	NP_001304113.1:p.Met814Val
NM_001317185.2:c.1075A>G	NP_001304114.1:p.Met359Val
NM_001317186.2:c.658A>G	NP_001304115.1:p.Met220Val