Canonical Allele Identifier: CA10647973

Gene: CDH1

Linked Data

• ClinVar Variation Id: 320267
• ClinVar RCV Id: RCV001613027 ; RCV001690063 ; RCV003328320
• dbSNP Id: rs1801026
• gnomAD v2: 16-68867456-C-T
• gnomAD v3: 16-68833553-C-T
• gnomAD v4: 16-68833553-C-T
• MyVariant Identifiers: chr16:g.68867456C>T (hg19) ; chr16:g.68833553C>T (hg38)
• ERepo: CA10647973/MONDO:0007648/007 ; CA10647973/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833553C>T , CM000678.2:g.68833553C>T	GRCh38
NC_000016.9:g.68867456C>T , CM000678.1:g.68867456C>T	GRCh37
NC_000016.8:g.67424957C>T	NCBI36
NG_008021.1:g.101262C>T , LRG_301:g.101262C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.*54C>T MANE Select	ENSP00000261769.4:n.*54C>T
ENST00000261769.9:c.*54C>T	ENSP00000261769.4:n.*54C>T
ENST00000562118.1:n.921C>T
ENST00000566612.5:c.*943C>T	ENSP00000454782.1:n.*943C>T
ENST00000611625.4:c.*54C>T	ENSP00000481063.1:n.*54C>T
ENST00000612417.4:c.1854-638C>T	ENSP00000478360.1:n.1854-638C>T
ENST00000621016.4:c.1866-650C>T	ENSP00000480664.1:n.1866-650C>T
NM_004360.3:c.*54C>T , LRG_301t1:c.*54C>T	NP_004351.1:n.*54C>T
XM_011523488.1:c.*54C>T	XP_011521790.1:n.*54C>T
XM_011523489.1:c.*54C>T	XP_011521791.1:n.*54C>T
NM_001317184.1:c.*54C>T	NP_001304113.1:n.*54C>T
NM_001317185.1:c.*54C>T	NP_001304114.1:n.*54C>T
NM_001317186.1:c.*54C>T	NP_001304115.1:n.*54C>T
NM_004360.4:c.*54C>T	NP_004351.1:n.*54C>T
NM_004360.5:c.*54C>T MANE Select	NP_004351.1:n.*54C>T
NM_001317184.2:c.*54C>T	NP_001304113.1:n.*54C>T
NM_001317185.2:c.*54C>T	NP_001304114.1:n.*54C>T
NM_001317186.2:c.*54C>T	NP_001304115.1:n.*54C>T