Canonical Allele Identifier: CA377158216

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1687043
• ClinVar RCV Id: RCV002248479
• dbSNP Id: rs2132965891
• MyVariant Identifiers: chr10:g.73558273T>C (hg19) ; chr10:g.71798516T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798516T>C , CM000672.2:g.71798516T>C	GRCh38
NC_000010.10:g.73558273T>C , CM000672.1:g.73558273T>C	GRCh37
NC_000010.9:g.73228279T>C	NCBI36
NG_008835.1:g.406570T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6992T>C MANE Select	ENSP00000224721.9:p.Val2331Ala
ENST00000642965.1:c.925T>C	ENSP00000495222.1:n.925T>C
ENST00000647092.1:c.589T>C	ENSP00000495176.1:n.589T>C
ENST00000224721.10:c.7007T>C	ENSP00000224721.8:p.Val2336Ala
ENST00000398788.4:c.272T>C	ENSP00000381768.3:p.Val91Ala
ENST00000475158.1:n.528T>C
ENST00000619887.4:c.272T>C	ENSP00000478374.1:p.Val91Ala
ENST00000622827.4:c.6992T>C	ENSP00000483211.1:p.Val2331Ala
NM_001171933.1:c.272T>C	NP_001165404.1:p.Val91Ala
NM_001171934.1:c.272T>C	NP_001165405.1:p.Val91Ala
NM_022124.5:c.6992T>C	NP_071407.4:p.Val2331Ala
XM_006717940.2:c.7187T>C	XP_006718003.1:p.Val2396Ala
XM_006717942.2:c.7121T>C	XP_006718005.1:p.Val2374Ala
XM_011540039.1:c.7184T>C	XP_011538341.1:p.Val2395Ala
XM_011540040.1:c.7181T>C	XP_011538342.1:p.Val2394Ala
XM_011540041.1:c.7127T>C	XP_011538343.1:p.Val2376Ala
XM_011540042.1:c.7097T>C	XP_011538344.1:p.Val2366Ala
XM_011540043.1:c.7187T>C	XP_011538345.1:p.Val2396Ala
XM_011540044.1:c.7052T>C	XP_011538346.1:p.Val2351Ala
XM_011540045.1:c.7187T>C	XP_011538347.1:p.Val2396Ala
XM_011540046.1:c.6647T>C	XP_011538348.1:p.Val2216Ala
XM_011540047.1:c.6005T>C	XP_011538349.1:p.Val2002Ala
XM_011540052.1:c.3515T>C	XP_011538354.1:p.Val1172Ala
NM_022124.6:c.6992T>C MANE Select	NP_071407.4:p.Val2331Ala