Canonical Allele Identifier: CA10635726

Gene: CDH23

Linked Data

• ClinVar Variation Id: 300490
• ClinVar RCV Id: RCV000269900 ; RCV000271219 ; RCV000328475 ; RCV000365801 ; RCV000380695 ; RCV000402848 ; RCV001103426 ; RCV001103427
• dbSNP Id: rs115033851
• gnomAD v2: 10-73575396-C-A
• gnomAD v3: 10-71815639-C-A
• gnomAD v4: 10-71815639-C-A
• MyVariant Identifiers: chr10:g.73575396C>A (hg19) ; chr10:g.71815639C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71815639C>A , CM000672.2:g.71815639C>A	GRCh38
NC_000010.10:g.73575396C>A , CM000672.1:g.73575396C>A	GRCh37
NC_000010.9:g.73245402C>A	NCBI36
NG_008835.1:g.423693C>A
NG_009301.1:g.40687G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.*361C>A MANE Select	ENSP00000224721.9:n.*361C>A
ENST00000642965.1:c.4359C>A	ENSP00000495222.1:n.4359C>A
ENST00000647092.1:c.3918C>A	ENSP00000495176.1:n.3918C>A
ENST00000224721.10:c.*361C>A	ENSP00000224721.8:n.*361C>A
ENST00000398788.4:c.*361C>A	ENSP00000381768.3:n.*361C>A
ENST00000475158.1:n.3857C>A
ENST00000619887.4:c.*361C>A	ENSP00000478374.1:n.*361C>A
ENST00000622827.4:c.*361C>A	ENSP00000483211.1:n.*361C>A
NM_001171933.1:c.*361C>A	NP_001165404.1:n.*361C>A
NM_001171934.1:c.*361C>A	NP_001165405.1:n.*361C>A
NM_001171935.1:c.*361C>A	NP_001165406.1:n.*361C>A
NM_001171936.1:c.*361C>A	NP_001165407.1:n.*361C>A
NM_022124.5:c.*361C>A	NP_071407.4:n.*361C>A
XM_006717940.2:c.*361C>A	XP_006718003.1:n.*361C>A
XM_006717942.2:c.*361C>A	XP_006718005.1:n.*361C>A
XM_011540039.1:c.*361C>A	XP_011538341.1:n.*361C>A
XM_011540040.1:c.*361C>A	XP_011538342.1:n.*361C>A
XM_011540041.1:c.*361C>A	XP_011538343.1:n.*361C>A
XM_011540042.1:c.*361C>A	XP_011538344.1:n.*361C>A
XM_011540043.1:c.*361C>A	XP_011538345.1:n.*361C>A
XM_011540044.1:c.*361C>A	XP_011538346.1:n.*361C>A
XM_011540046.1:c.*361C>A	XP_011538348.1:n.*361C>A
XM_011540047.1:c.*361C>A	XP_011538349.1:n.*361C>A
XM_011540052.1:c.*361C>A	XP_011538354.1:n.*361C>A
NM_022124.6:c.*361C>A MANE Select	NP_071407.4:n.*361C>A