Canonical Allele Identifier: CA496393070

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2788983
• ClinVar RCV Id: RCV003624685
• MyVariant Identifiers: chr16:g.68857337T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823434T>C , CM000678.2:g.68823434T>C	GRCh38
NC_000016.9:g.68857337T>C , CM000678.1:g.68857337T>C	GRCh37
NC_000016.8:g.67414838T>C	NCBI36
NG_008021.1:g.91143T>C , LRG_301:g.91143T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1972T>C MANE Select	ENSP00000261769.4:p.Leu658=
ENST00000261769.9:c.1972T>C	ENSP00000261769.4:p.Leu658=
ENST00000422392.6:c.1789T>C	ENSP00000414946.2:p.Leu597=
ENST00000562118.1:n.190T>C
ENST00000562836.5:n.2043T>C
ENST00000566510.5:c.*638T>C	ENSP00000458139.1:n.*638T>C
ENST00000566612.5:c.*212T>C	ENSP00000454782.1:n.*212T>C
ENST00000611625.4:c.2035T>C	ENSP00000481063.1:p.Leu679=
ENST00000612417.4:c.1830+1315T>C	ENSP00000478360.1:n.1830+1315T>C
ENST00000621016.4:c.1865+1280T>C	ENSP00000480664.1:n.1865+1280T>C
NM_004360.3:c.1972T>C , LRG_301t1:c.1972T>C	NP_004351.1:p.Leu658=
XM_011523488.1:c.1237T>C	XP_011521790.1:p.Leu413=
XM_011523489.1:c.1237T>C	XP_011521791.1:p.Leu413=
NM_001317184.1:c.1789T>C	NP_001304113.1:p.Leu597=
NM_001317185.1:c.424T>C	NP_001304114.1:p.Leu142=
NM_001317186.1:c.7T>C	NP_001304115.1:p.Leu3=
NM_004360.4:c.1972T>C	NP_004351.1:p.Leu658=
NM_004360.5:c.1972T>C MANE Select	NP_004351.1:p.Leu658=
NM_001317184.2:c.1789T>C	NP_001304113.1:p.Leu597=
NM_001317185.2:c.424T>C	NP_001304114.1:p.Leu142=
NM_001317186.2:c.7T>C	NP_001304115.1:p.Leu3=