Canonical Allele Identifier: CA5546609

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1159191
• ClinVar RCV Id: RCV001502860
• dbSNP Id: rs375788101
• ExAC: 10:73567175 C / G
• gnomAD v2: 10-73567175-C-G
• gnomAD v3: 10-71807418-C-G
• gnomAD v4: 10-71807418-C-G
• MyVariant Identifiers: chr10:g.73567175C>G (hg19) ; chr10:g.71807418C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807418C>G , CM000672.2:g.71807418C>G	GRCh38
NC_000010.10:g.73567175C>G , CM000672.1:g.73567175C>G	GRCh37
NC_000010.9:g.73237181C>G	NCBI36
NG_008835.1:g.415472C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8308+12C>G MANE Select	ENSP00000224721.9:n.8308+12C>G
ENST00000642965.1:c.2241+12C>G	ENSP00000495222.1:n.2241+12C>G
ENST00000647092.1:c.1905+12C>G	ENSP00000495176.1:n.1905+12C>G
ENST00000224721.10:c.8323+12C>G	ENSP00000224721.8:n.8323+12C>G
ENST00000398788.4:c.1588+12C>G	ENSP00000381768.3:n.1588+12C>G
ENST00000475158.1:n.1844+12C>G
ENST00000619887.4:c.1588+12C>G	ENSP00000478374.1:n.1588+12C>G
ENST00000622827.4:c.8308+12C>G	ENSP00000483211.1:n.8308+12C>G
NM_001171933.1:c.1588+12C>G	NP_001165404.1:n.1588+12C>G
NM_001171934.1:c.1588+12C>G	NP_001165405.1:n.1588+12C>G
NM_022124.5:c.8308+12C>G	NP_071407.4:n.8308+12C>G
XM_006717940.2:c.8503+12C>G	XP_006718003.1:n.8503+12C>G
XM_006717942.2:c.8437+12C>G	XP_006718005.1:n.8437+12C>G
XM_011540039.1:c.8500+12C>G	XP_011538341.1:n.8500+12C>G
XM_011540040.1:c.8497+12C>G	XP_011538342.1:n.8497+12C>G
XM_011540041.1:c.8443+12C>G	XP_011538343.1:n.8443+12C>G
XM_011540042.1:c.8413+12C>G	XP_011538344.1:n.8413+12C>G
XM_011540043.1:c.8503+12C>G	XP_011538345.1:n.8503+12C>G
XM_011540044.1:c.8368+12C>G	XP_011538346.1:n.8368+12C>G
XM_011540045.1:c.8503+12C>G	XP_011538347.1:n.8503+12C>G
XM_011540046.1:c.7963+12C>G	XP_011538348.1:n.7963+12C>G
XM_011540047.1:c.7321+12C>G	XP_011538349.1:n.7321+12C>G
XM_011540052.1:c.4831+12C>G	XP_011538354.1:n.4831+12C>G
NM_022124.6:c.8308+12C>G MANE Select	NP_071407.4:n.8308+12C>G