Canonical Allele Identifier: CA5546229

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1507343
• ClinVar RCV Id: RCV002013440
• dbSNP Id: rs749516076
• ExAC: 10:73558292 C / G
• gnomAD v2: 10-73558292-C-G
• gnomAD v4: 10-71798535-C-G
• MyVariant Identifiers: chr10:g.73558292C>G (hg19) ; chr10:g.71798535C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798535C>G , CM000672.2:g.71798535C>G	GRCh38
NC_000010.10:g.73558292C>G , CM000672.1:g.73558292C>G	GRCh37
NC_000010.9:g.73228298C>G	NCBI36
NG_008835.1:g.406589C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7011C>G MANE Select	ENSP00000224721.9:p.Asp2337Glu
ENST00000642965.1:c.944C>G	ENSP00000495222.1:n.944C>G
ENST00000647092.1:c.608C>G	ENSP00000495176.1:n.608C>G
ENST00000224721.10:c.7026C>G	ENSP00000224721.8:p.Asp2342Glu
ENST00000398788.4:c.291C>G	ENSP00000381768.3:p.Asp97Glu
ENST00000475158.1:n.547C>G
ENST00000619887.4:c.291C>G	ENSP00000478374.1:p.Asp97Glu
ENST00000622827.4:c.7011C>G	ENSP00000483211.1:p.Asp2337Glu
NM_001171933.1:c.291C>G	NP_001165404.1:p.Asp97Glu
NM_001171934.1:c.291C>G	NP_001165405.1:p.Asp97Glu
NM_022124.5:c.7011C>G	NP_071407.4:p.Asp2337Glu
XM_006717940.2:c.7206C>G	XP_006718003.1:p.Asp2402Glu
XM_006717942.2:c.7140C>G	XP_006718005.1:p.Asp2380Glu
XM_011540039.1:c.7203C>G	XP_011538341.1:p.Asp2401Glu
XM_011540040.1:c.7200C>G	XP_011538342.1:p.Asp2400Glu
XM_011540041.1:c.7146C>G	XP_011538343.1:p.Asp2382Glu
XM_011540042.1:c.7116C>G	XP_011538344.1:p.Asp2372Glu
XM_011540043.1:c.7206C>G	XP_011538345.1:p.Asp2402Glu
XM_011540044.1:c.7071C>G	XP_011538346.1:p.Asp2357Glu
XM_011540045.1:c.7206C>G	XP_011538347.1:p.Asp2402Glu
XM_011540046.1:c.6666C>G	XP_011538348.1:p.Asp2222Glu
XM_011540047.1:c.6024C>G	XP_011538349.1:p.Asp2008Glu
XM_011540052.1:c.3534C>G	XP_011538354.1:p.Asp1178Glu
NM_022124.6:c.7011C>G MANE Select	NP_071407.4:p.Asp2337Glu