Canonical Allele Identifier: CA137561
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 46026
dbSNP Id: rs4747194

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71799129G>A , CM000672.2:g.71799129G>A GRCh38
NC_000010.10:g.73558886G>A , CM000672.1:g.73558886G>A GRCh37
NC_000010.9:g.73228892G>A NCBI36
NG_008835.1:g.407183G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.7073G>A MANE Select ENSP00000224721.9:p.Arg2358Gln
ENST00000642965.1:c.1006G>A ENSP00000495222.1:n.1006G>A
ENST00000647092.1:c.670G>A ENSP00000495176.1:n.670G>A
ENST00000224721.10:c.7088G>A ENSP00000224721.8:p.Arg2363Gln
ENST00000398788.4:c.353G>A ENSP00000381768.3:p.Arg118Gln
ENST00000475158.1:n.609G>A
ENST00000619887.4:c.353G>A ENSP00000478374.1:p.Arg118Gln
ENST00000622827.4:c.7073G>A ENSP00000483211.1:p.Arg2358Gln
NM_001171933.1:c.353G>A NP_001165404.1:p.Arg118Gln
NM_001171934.1:c.353G>A NP_001165405.1:p.Arg118Gln
NM_022124.5:c.7073G>A NP_071407.4:p.Arg2358Gln
XM_006717940.2:c.7268G>A XP_006718003.1:p.Arg2423Gln
XM_006717942.2:c.7202G>A XP_006718005.1:p.Arg2401Gln
XM_011540039.1:c.7265G>A XP_011538341.1:p.Arg2422Gln
XM_011540040.1:c.7262G>A XP_011538342.1:p.Arg2421Gln
XM_011540041.1:c.7208G>A XP_011538343.1:p.Arg2403Gln
XM_011540042.1:c.7178G>A XP_011538344.1:p.Arg2393Gln
XM_011540043.1:c.7268G>A XP_011538345.1:p.Arg2423Gln
XM_011540044.1:c.7133G>A XP_011538346.1:p.Arg2378Gln
XM_011540045.1:c.7268G>A XP_011538347.1:p.Arg2423Gln
XM_011540046.1:c.6728G>A XP_011538348.1:p.Arg2243Gln
XM_011540047.1:c.6086G>A XP_011538349.1:p.Arg2029Gln
XM_011540052.1:c.3596G>A XP_011538354.1:p.Arg1199Gln
NM_022124.6:c.7073G>A MANE Select NP_071407.4:p.Arg2358Gln