Canonical Allele Identifier: CA377131281

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2680497
• ClinVar RCV Id: RCV003474526 ; RCV003565690
• dbSNP Id: rs2132988609
• gnomAD v4: 10-71807515-G-A
• MyVariant Identifiers: chr10:g.73567272G>A (hg19) ; chr10:g.71807515G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807515G>A , CM000672.2:g.71807515G>A	GRCh38
NC_000010.10:g.73567272G>A , CM000672.1:g.73567272G>A	GRCh37
NC_000010.9:g.73237278G>A	NCBI36
NG_008835.1:g.415569G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8309-1G>A MANE Select	ENSP00000224721.9:n.8309-1G>A
ENST00000642965.1:c.2242-1G>A	ENSP00000495222.1:n.2242-1G>A
ENST00000647092.1:c.1906-1G>A	ENSP00000495176.1:n.1906-1G>A
ENST00000224721.10:c.8324-1G>A	ENSP00000224721.8:n.8324-1G>A
ENST00000398788.4:c.1589-1G>A	ENSP00000381768.3:n.1589-1G>A
ENST00000475158.1:n.1845-1G>A
ENST00000619887.4:c.1589-1G>A	ENSP00000478374.1:n.1589-1G>A
ENST00000622827.4:c.8309-1G>A	ENSP00000483211.1:n.8309-1G>A
NM_001171933.1:c.1589-1G>A	NP_001165404.1:n.1589-1G>A
NM_001171934.1:c.1589-1G>A	NP_001165405.1:n.1589-1G>A
NM_022124.5:c.8309-1G>A	NP_071407.4:n.8309-1G>A
XM_006717940.2:c.8504-1G>A	XP_006718003.1:n.8504-1G>A
XM_006717942.2:c.8438-1G>A	XP_006718005.1:n.8438-1G>A
XM_011540039.1:c.8501-1G>A	XP_011538341.1:n.8501-1G>A
XM_011540040.1:c.8498-1G>A	XP_011538342.1:n.8498-1G>A
XM_011540041.1:c.8444-1G>A	XP_011538343.1:n.8444-1G>A
XM_011540042.1:c.8414-1G>A	XP_011538344.1:n.8414-1G>A
XM_011540043.1:c.8504-1G>A	XP_011538345.1:n.8504-1G>A
XM_011540044.1:c.8369-1G>A	XP_011538346.1:n.8369-1G>A
XM_011540045.1:c.8504-1G>A	XP_011538347.1:n.8504-1G>A
XM_011540046.1:c.7964-1G>A	XP_011538348.1:n.7964-1G>A
XM_011540047.1:c.7322-1G>A	XP_011538349.1:n.7322-1G>A
XM_011540052.1:c.4832-1G>A	XP_011538354.1:n.4832-1G>A
NM_022124.6:c.8309-1G>A MANE Select	NP_071407.4:n.8309-1G>A