Canonical Allele Identifier: CA5546273

Gene: CDH23

Linked Data

• ClinVar Variation Id: 498100
• ClinVar RCV Id: RCV000592322 ; RCV002232558 ; RCV002483589 ; RCV002283493 ; RCV003471953
• dbSNP Id: rs759439688
• ExAC: 10:73558958 G / A
• gnomAD v2: 10-73558958-G-A
• gnomAD v3: 10-71799201-G-A
• gnomAD v4: 10-71799201-G-A
• COSMIC: COSM260029
• MyVariant Identifiers: chr10:g.73558958G>A (hg19) ; chr10:g.71799201G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799201G>A , CM000672.2:g.71799201G>A	GRCh38
NC_000010.10:g.73558958G>A , CM000672.1:g.73558958G>A	GRCh37
NC_000010.9:g.73228964G>A	NCBI36
NG_008835.1:g.407255G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7145G>A MANE Select	ENSP00000224721.9:p.Arg2382Gln
ENST00000642965.1:c.1078G>A	ENSP00000495222.1:n.1078G>A
ENST00000647092.1:c.742G>A	ENSP00000495176.1:n.742G>A
ENST00000224721.10:c.7160G>A	ENSP00000224721.8:p.Arg2387Gln
ENST00000398788.4:c.425G>A	ENSP00000381768.3:p.Arg142Gln
ENST00000475158.1:n.681G>A
ENST00000619887.4:c.425G>A	ENSP00000478374.1:p.Arg142Gln
ENST00000622827.4:c.7145G>A	ENSP00000483211.1:p.Arg2382Gln
NM_001171933.1:c.425G>A	NP_001165404.1:p.Arg142Gln
NM_001171934.1:c.425G>A	NP_001165405.1:p.Arg142Gln
NM_022124.5:c.7145G>A	NP_071407.4:p.Arg2382Gln
XM_006717940.2:c.7340G>A	XP_006718003.1:p.Arg2447Gln
XM_006717942.2:c.7274G>A	XP_006718005.1:p.Arg2425Gln
XM_011540039.1:c.7337G>A	XP_011538341.1:p.Arg2446Gln
XM_011540040.1:c.7334G>A	XP_011538342.1:p.Arg2445Gln
XM_011540041.1:c.7280G>A	XP_011538343.1:p.Arg2427Gln
XM_011540042.1:c.7250G>A	XP_011538344.1:p.Arg2417Gln
XM_011540043.1:c.7340G>A	XP_011538345.1:p.Arg2447Gln
XM_011540044.1:c.7205G>A	XP_011538346.1:p.Arg2402Gln
XM_011540045.1:c.7340G>A	XP_011538347.1:p.Arg2447Gln
XM_011540046.1:c.6800G>A	XP_011538348.1:p.Arg2267Gln
XM_011540047.1:c.6158G>A	XP_011538349.1:p.Arg2053Gln
XM_011540052.1:c.3668G>A	XP_011538354.1:p.Arg1223Gln
NM_022124.6:c.7145G>A MANE Select	NP_071407.4:p.Arg2382Gln