Canonical Allele Identifier: CA137583

Gene: CDH23

Linked Data

• ClinVar Variation Id: 46038
• ClinVar RCV Id: RCV000039274 ; RCV001104790 ; RCV001104789 ; RCV001522497 ; RCV001826580
• dbSNP Id: rs41281338
• ExAC: 10:73563067 G / C
• gnomAD v2: 10-73563067-G-C
• gnomAD v3: 10-71803310-G-C
• gnomAD v4: 10-71803310-G-C
• MyVariant Identifiers: chr10:g.73563067G>C (hg19) ; chr10:g.71803310G>C (hg38)
• PubMed: PMID:12075507 ; PMID:18429043 ; PMID:20146813

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71803310G>C , CM000672.2:g.71803310G>C	GRCh38
NC_000010.10:g.73563067G>C , CM000672.1:g.73563067G>C	GRCh37
NC_000010.9:g.73233073G>C	NCBI36
NG_008835.1:g.411364G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7762G>C MANE Select	ENSP00000224721.9:p.Glu2588Gln
ENST00000642965.1:c.1695G>C	ENSP00000495222.1:n.1695G>C
ENST00000647092.1:c.1359G>C	ENSP00000495176.1:n.1359G>C
ENST00000224721.10:c.7777G>C	ENSP00000224721.8:p.Glu2593Gln
ENST00000398788.4:c.1042G>C	ENSP00000381768.3:p.Glu348Gln
ENST00000475158.1:n.1298G>C
ENST00000619887.4:c.1042G>C	ENSP00000478374.1:p.Glu348Gln
ENST00000622827.4:c.7762G>C	ENSP00000483211.1:p.Glu2588Gln
NM_001171933.1:c.1042G>C	NP_001165404.1:p.Glu348Gln
NM_001171934.1:c.1042G>C	NP_001165405.1:p.Glu348Gln
NM_022124.5:c.7762G>C	NP_071407.4:p.Glu2588Gln
XM_006717940.2:c.7957G>C	XP_006718003.1:p.Glu2653Gln
XM_006717942.2:c.7891G>C	XP_006718005.1:p.Glu2631Gln
XM_011540039.1:c.7954G>C	XP_011538341.1:p.Glu2652Gln
XM_011540040.1:c.7951G>C	XP_011538342.1:p.Glu2651Gln
XM_011540041.1:c.7897G>C	XP_011538343.1:p.Glu2633Gln
XM_011540042.1:c.7867G>C	XP_011538344.1:p.Glu2623Gln
XM_011540043.1:c.7957G>C	XP_011538345.1:p.Glu2653Gln
XM_011540044.1:c.7822G>C	XP_011538346.1:p.Glu2608Gln
XM_011540045.1:c.7957G>C	XP_011538347.1:p.Glu2653Gln
XM_011540046.1:c.7417G>C	XP_011538348.1:p.Glu2473Gln
XM_011540047.1:c.6775G>C	XP_011538349.1:p.Glu2259Gln
XM_011540052.1:c.4285G>C	XP_011538354.1:p.Glu1429Gln
NM_022124.6:c.7762G>C MANE Select	NP_071407.4:p.Glu2588Gln