Canonical Allele Identifier: CA283314687

Gene: CDH1

Linked Data

• dbSNP Id: rs188124477
• gnomAD v2: 16-68861733-C-T
• gnomAD v3: 16-68827830-C-T
• gnomAD v4: 16-68827830-C-T
• MyVariant Identifiers: chr16:g.68861733C>T (hg19) ; chr16:g.68827830C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68827830C>T , CM000678.2:g.68827830C>T	GRCh38
NC_000016.9:g.68861733C>T , CM000678.1:g.68861733C>T	GRCh37
NC_000016.8:g.67419234C>T	NCBI36
NG_008021.1:g.95539C>T , LRG_301:g.95539C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2165-344C>T MANE Select	ENSP00000261769.4:n.2165-344C>T
ENST00000261769.9:c.2165-344C>T	ENSP00000261769.4:n.2165-344C>T
ENST00000422392.6:c.1982-344C>T	ENSP00000414946.2:n.1982-344C>T
ENST00000562118.1:n.383-344C>T
ENST00000562836.5:n.2236-344C>T
ENST00000566510.5:c.*831-344C>T	ENSP00000458139.1:n.*831-344C>T
ENST00000566612.5:c.*405-344C>T	ENSP00000454782.1:n.*405-344C>T
ENST00000611625.4:c.2228-344C>T	ENSP00000481063.1:n.2228-344C>T
ENST00000612417.4:c.1853+1276C>T	ENSP00000478360.1:n.1853+1276C>T
ENST00000621016.4:c.1865+5676C>T	ENSP00000480664.1:n.1865+5676C>T
NM_004360.3:c.2165-344C>T , LRG_301t1:c.2165-344C>T	NP_004351.1:n.2165-344C>T
XM_011523488.1:c.1430-344C>T	XP_011521790.1:n.1430-344C>T
XM_011523489.1:c.1430-344C>T	XP_011521791.1:n.1430-344C>T
NM_001317184.1:c.1982-344C>T	NP_001304113.1:n.1982-344C>T
NM_001317185.1:c.617-344C>T	NP_001304114.1:n.617-344C>T
NM_001317186.1:c.200-344C>T	NP_001304115.1:n.200-344C>T
NM_004360.4:c.2165-344C>T	NP_004351.1:n.2165-344C>T
NM_004360.5:c.2165-344C>T MANE Select	NP_004351.1:n.2165-344C>T
NM_001317184.2:c.1982-344C>T	NP_001304113.1:n.1982-344C>T
NM_001317185.2:c.617-344C>T	NP_001304114.1:n.617-344C>T
NM_001317186.2:c.200-344C>T	NP_001304115.1:n.200-344C>T