Canonical Allele Identifier: CA294161
Community Standard Title: NM_004360.5(CDH1):c.371G>A (p.Arg124His)
Gene: CDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801877G>A , CM000678.2:g.68801877G>A GRCh38
NC_000016.9:g.68835780G>A , CM000678.1:g.68835780G>A GRCh37
NC_000016.8:g.67393281G>A NCBI36
NG_008021.1:g.69586G>A , LRG_301:g.69586G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004360.5:c.371G>A MANE Select NP_004351.1:p.Arg124His
ENST00000261769.10:c.371G>A MANE Select ENSP00000261769.4:p.Arg124His
NM_001317184.1:c.371G>A NP_001304113.1:p.Arg124His
NM_001317184.2:c.371G>A NP_001304113.1:p.Arg124His
NM_001317185.1:c.-1245G>A NP_001304114.1:n.-1245G>A
NM_001317185.2:c.-1245G>A NP_001304114.1:n.-1245G>A
NM_001317186.1:c.-1449G>A NP_001304115.1:n.-1449G>A
NM_001317186.2:c.-1449G>A NP_001304115.1:n.-1449G>A
NM_004360.3:c.371G>A , LRG_301t1:c.371G>A NP_004351.1:p.Arg124His
NM_004360.4:c.371G>A NP_004351.1:p.Arg124His
ENST00000261769.9:c.371G>A ENSP00000261769.4:p.Arg124His
ENST00000422392.6:c.371G>A ENSP00000414946.2:p.Arg124His
ENST00000561751.1:c.138G>A
ENST00000562836.5:n.442G>A
ENST00000564676.5:n.653G>A
ENST00000564745.1:n.366G>A
ENST00000566510.5:c.371G>A ENSP00000458139.1:p.Arg124His
ENST00000566612.5:c.371G>A ENSP00000454782.1:p.Arg124His
ENST00000611625.4:c.371G>A ENSP00000481063.1:p.Arg124His
ENST00000612417.4:c.371G>A ENSP00000478360.1:p.Arg124His
ENST00000621016.4:c.371G>A ENSP00000480664.1:p.Arg124His
XM_011523488.1:c.-365G>A XP_011521790.1:n.-365G>A
XM_011523489.1:c.-365G>A XP_011521791.1:n.-365G>A