Canonical Allele Identifier: CA5546213

Gene: CDH23

Linked Data

• ClinVar Variation Id: 840016
• ClinVar RCV Id: RCV001041905 ; RCV001827251 ; RCV002481892
• dbSNP Id: rs370912192
• ExAC: 10:73558150 C / T
• gnomAD v2: 10-73558150-C-T
• gnomAD v3: 10-71798393-C-T
• gnomAD v4: 10-71798393-C-T
• MyVariant Identifiers: chr10:g.73558150C>T (hg19) ; chr10:g.71798393C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798393C>T , CM000672.2:g.71798393C>T	GRCh38
NC_000010.10:g.73558150C>T , CM000672.1:g.73558150C>T	GRCh37
NC_000010.9:g.73228156C>T	NCBI36
NG_008835.1:g.406447C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6869C>T MANE Select	ENSP00000224721.9:p.Thr2290Met
ENST00000642965.1:c.802C>T	ENSP00000495222.1:n.802C>T
ENST00000647092.1:c.466C>T	ENSP00000495176.1:n.466C>T
ENST00000224721.10:c.6884C>T	ENSP00000224721.8:p.Thr2295Met
ENST00000398788.4:c.149C>T	ENSP00000381768.3:p.Thr50Met
ENST00000475158.1:n.405C>T
ENST00000619887.4:c.149C>T	ENSP00000478374.1:p.Thr50Met
ENST00000622827.4:c.6869C>T	ENSP00000483211.1:p.Thr2290Met
NM_001171933.1:c.149C>T	NP_001165404.1:p.Thr50Met
NM_001171934.1:c.149C>T	NP_001165405.1:p.Thr50Met
NM_022124.5:c.6869C>T	NP_071407.4:p.Thr2290Met
XM_006717940.2:c.7064C>T	XP_006718003.1:p.Thr2355Met
XM_006717942.2:c.6998C>T	XP_006718005.1:p.Thr2333Met
XM_011540039.1:c.7061C>T	XP_011538341.1:p.Thr2354Met
XM_011540040.1:c.7058C>T	XP_011538342.1:p.Thr2353Met
XM_011540041.1:c.7004C>T	XP_011538343.1:p.Thr2335Met
XM_011540042.1:c.6974C>T	XP_011538344.1:p.Thr2325Met
XM_011540043.1:c.7064C>T	XP_011538345.1:p.Thr2355Met
XM_011540044.1:c.6929C>T	XP_011538346.1:p.Thr2310Met
XM_011540045.1:c.7064C>T	XP_011538347.1:p.Thr2355Met
XM_011540046.1:c.6524C>T	XP_011538348.1:p.Thr2175Met
XM_011540047.1:c.5882C>T	XP_011538349.1:p.Thr1961Met
XM_011540052.1:c.3392C>T	XP_011538354.1:p.Thr1131Met
NM_022124.6:c.6869C>T MANE Select	NP_071407.4:p.Thr2290Met