Canonical Allele Identifier: CA5546726

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1208888
• ClinVar RCV Id: RCV001577362
• dbSNP Id: rs373776256
• ExAC: 10:73569530 G / A
• gnomAD v2: 10-73569530-G-A
• gnomAD v3: 10-71809773-G-A
• gnomAD v4: 10-71809773-G-A
• MyVariant Identifiers: chr10:g.73569530G>A (hg19) ; chr10:g.71809773G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71809773G>A , CM000672.2:g.71809773G>A	GRCh38
NC_000010.10:g.73569530G>A , CM000672.1:g.73569530G>A	GRCh37
NC_000010.9:g.73239536G>A	NCBI36
NG_008835.1:g.417827G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8723-47G>A MANE Select	ENSP00000224721.9:n.8723-47G>A
ENST00000642965.1:c.2656-47G>A	ENSP00000495222.1:n.2656-47G>A
ENST00000647092.1:c.2320-47G>A	ENSP00000495176.1:n.2320-47G>A
ENST00000224721.10:c.8738-47G>A	ENSP00000224721.8:n.8738-47G>A
ENST00000398788.4:c.2003-47G>A	ENSP00000381768.3:n.2003-47G>A
ENST00000475158.1:n.2259-47G>A
ENST00000619887.4:c.2003-47G>A	ENSP00000478374.1:n.2003-47G>A
ENST00000622827.4:c.8723-47G>A	ENSP00000483211.1:n.8723-47G>A
NM_001171933.1:c.2003-47G>A	NP_001165404.1:n.2003-47G>A
NM_001171934.1:c.2003-47G>A	NP_001165405.1:n.2003-47G>A
NM_022124.5:c.8723-47G>A	NP_071407.4:n.8723-47G>A
XM_006717940.2:c.8918-47G>A	XP_006718003.1:n.8918-47G>A
XM_006717942.2:c.8852-47G>A	XP_006718005.1:n.8852-47G>A
XM_011540039.1:c.8915-47G>A	XP_011538341.1:n.8915-47G>A
XM_011540040.1:c.8912-47G>A	XP_011538342.1:n.8912-47G>A
XM_011540041.1:c.8858-47G>A	XP_011538343.1:n.8858-47G>A
XM_011540042.1:c.8828-47G>A	XP_011538344.1:n.8828-47G>A
XM_011540043.1:c.8918-47G>A	XP_011538345.1:n.8918-47G>A
XM_011540044.1:c.8783-47G>A	XP_011538346.1:n.8783-47G>A
XM_011540045.1:c.8918-47G>A	XP_011538347.1:n.8918-47G>A
XM_011540046.1:c.8378-47G>A	XP_011538348.1:n.8378-47G>A
XM_011540047.1:c.7736-47G>A	XP_011538349.1:n.7736-47G>A
XM_011540052.1:c.5246-47G>A	XP_011538354.1:n.5246-47G>A
NM_022124.6:c.8723-47G>A MANE Select	NP_071407.4:n.8723-47G>A