Canonical Allele Identifier: CA137554

Gene: CDH23

Linked Data

• ClinVar Variation Id: 46021
• ClinVar RCV Id: RCV000039257 ; RCV000260501 ; RCV000353028 ; RCV000764921 ; RCV001244627 ; RCV001275584 ; RCV004528196
• dbSNP Id: rs201434373
• ExAC: 10:73558192 G / A
• gnomAD v2: 10-73558192-G-A
• gnomAD v3: 10-71798435-G-A
• gnomAD v4: 10-71798435-G-A
• COSMIC: COSM920159
• MyVariant Identifiers: chr10:g.73558192G>A (hg19) ; chr10:g.71798435G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798435G>A , CM000672.2:g.71798435G>A	GRCh38
NC_000010.10:g.73558192G>A , CM000672.1:g.73558192G>A	GRCh37
NC_000010.9:g.73228198G>A	NCBI36
NG_008835.1:g.406489G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6911G>A MANE Select	ENSP00000224721.9:p.Arg2304Gln
ENST00000642965.1:c.844G>A	ENSP00000495222.1:n.844G>A
ENST00000647092.1:c.508G>A	ENSP00000495176.1:n.508G>A
ENST00000224721.10:c.6926G>A	ENSP00000224721.8:p.Arg2309Gln
ENST00000398788.4:c.191G>A	ENSP00000381768.3:p.Arg64Gln
ENST00000475158.1:n.447G>A
ENST00000619887.4:c.191G>A	ENSP00000478374.1:p.Arg64Gln
ENST00000622827.4:c.6911G>A	ENSP00000483211.1:p.Arg2304Gln
NM_001171933.1:c.191G>A	NP_001165404.1:p.Arg64Gln
NM_001171934.1:c.191G>A	NP_001165405.1:p.Arg64Gln
NM_022124.5:c.6911G>A	NP_071407.4:p.Arg2304Gln
XM_006717940.2:c.7106G>A	XP_006718003.1:p.Arg2369Gln
XM_006717942.2:c.7040G>A	XP_006718005.1:p.Arg2347Gln
XM_011540039.1:c.7103G>A	XP_011538341.1:p.Arg2368Gln
XM_011540040.1:c.7100G>A	XP_011538342.1:p.Arg2367Gln
XM_011540041.1:c.7046G>A	XP_011538343.1:p.Arg2349Gln
XM_011540042.1:c.7016G>A	XP_011538344.1:p.Arg2339Gln
XM_011540043.1:c.7106G>A	XP_011538345.1:p.Arg2369Gln
XM_011540044.1:c.6971G>A	XP_011538346.1:p.Arg2324Gln
XM_011540045.1:c.7106G>A	XP_011538347.1:p.Arg2369Gln
XM_011540046.1:c.6566G>A	XP_011538348.1:p.Arg2189Gln
XM_011540047.1:c.5924G>A	XP_011538349.1:p.Arg1975Gln
XM_011540052.1:c.3434G>A	XP_011538354.1:p.Arg1145Gln
NM_022124.6:c.6911G>A MANE Select	NP_071407.4:p.Arg2304Gln