Canonical Allele Identifier: CA137620

Gene: CDH23

Linked Data

• ClinVar Variation Id: 46062
• ClinVar RCV Id: RCV000039298 ; RCV001104975 ; RCV001104974 ; RCV001513504
• dbSNP Id: rs45522532
• ExAC: 10:73570215 C / A
• gnomAD v2: 10-73570215-C-A
• gnomAD v3: 10-71810458-C-A
• gnomAD v4: 10-71810458-C-A
• MyVariant Identifiers: chr10:g.73570215C>A (hg19) ; chr10:g.71810458C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71810458C>A , CM000672.2:g.71810458C>A	GRCh38
NC_000010.10:g.73570215C>A , CM000672.1:g.73570215C>A	GRCh37
NC_000010.9:g.73240221C>A	NCBI36
NG_008835.1:g.418512C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8980-14C>A MANE Select	ENSP00000224721.9:n.8980-14C>A
ENST00000642965.1:c.2913-14C>A	ENSP00000495222.1:n.2913-14C>A
ENST00000647092.1:c.2577-14C>A	ENSP00000495176.1:n.2577-14C>A
ENST00000224721.10:c.8995-14C>A	ENSP00000224721.8:n.8995-14C>A
ENST00000398788.4:c.2260-14C>A	ENSP00000381768.3:n.2260-14C>A
ENST00000475158.1:n.2516-14C>A
ENST00000619887.4:c.2260-14C>A	ENSP00000478374.1:n.2260-14C>A
ENST00000622827.4:c.8980-14C>A	ENSP00000483211.1:n.8980-14C>A
NM_001171933.1:c.2260-14C>A	NP_001165404.1:n.2260-14C>A
NM_001171934.1:c.2260-14C>A	NP_001165405.1:n.2260-14C>A
NM_022124.5:c.8980-14C>A	NP_071407.4:n.8980-14C>A
XM_006717940.2:c.9175-14C>A	XP_006718003.1:n.9175-14C>A
XM_006717942.2:c.9109-14C>A	XP_006718005.1:n.9109-14C>A
XM_011540039.1:c.9172-14C>A	XP_011538341.1:n.9172-14C>A
XM_011540040.1:c.9169-14C>A	XP_011538342.1:n.9169-14C>A
XM_011540041.1:c.9115-14C>A	XP_011538343.1:n.9115-14C>A
XM_011540042.1:c.9085-14C>A	XP_011538344.1:n.9085-14C>A
XM_011540043.1:c.9175-14C>A	XP_011538345.1:n.9175-14C>A
XM_011540044.1:c.9040-14C>A	XP_011538346.1:n.9040-14C>A
XM_011540045.1:c.9175-14C>A	XP_011538347.1:n.9175-14C>A
XM_011540046.1:c.8635-14C>A	XP_011538348.1:n.8635-14C>A
XM_011540047.1:c.7993-14C>A	XP_011538349.1:n.7993-14C>A
XM_011540052.1:c.5503-14C>A	XP_011538354.1:n.5503-14C>A
NM_022124.6:c.8980-14C>A MANE Select	NP_071407.4:n.8980-14C>A