Canonical Allele Identifier: CA377131482

Gene: CDH23

Linked Data

• dbSNP Id: rs369697366
• gnomAD v4: 10-71807614-G-T
• MyVariant Identifiers: chr10:g.73567371G>T (hg19) ; chr10:g.71807614G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807614G>T , CM000672.2:g.71807614G>T	GRCh38
NC_000010.10:g.73567371G>T , CM000672.1:g.73567371G>T	GRCh37
NC_000010.9:g.73237377G>T	NCBI36
NG_008835.1:g.415668G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8407G>T MANE Select	ENSP00000224721.9:p.Val2803Phe
ENST00000642965.1:c.2340G>T	ENSP00000495222.1:n.2340G>T
ENST00000647092.1:c.2004G>T	ENSP00000495176.1:n.2004G>T
ENST00000224721.10:c.8422G>T	ENSP00000224721.8:p.Val2808Phe
ENST00000398788.4:c.1687G>T	ENSP00000381768.3:p.Val563Phe
ENST00000475158.1:n.1943G>T
ENST00000619887.4:c.1687G>T	ENSP00000478374.1:p.Val563Phe
ENST00000622827.4:c.8407G>T	ENSP00000483211.1:p.Val2803Phe
NM_001171933.1:c.1687G>T	NP_001165404.1:p.Val563Phe
NM_001171934.1:c.1687G>T	NP_001165405.1:p.Val563Phe
NM_022124.5:c.8407G>T	NP_071407.4:p.Val2803Phe
XM_006717940.2:c.8602G>T	XP_006718003.1:p.Val2868Phe
XM_006717942.2:c.8536G>T	XP_006718005.1:p.Val2846Phe
XM_011540039.1:c.8599G>T	XP_011538341.1:p.Val2867Phe
XM_011540040.1:c.8596G>T	XP_011538342.1:p.Val2866Phe
XM_011540041.1:c.8542G>T	XP_011538343.1:p.Val2848Phe
XM_011540042.1:c.8512G>T	XP_011538344.1:p.Val2838Phe
XM_011540043.1:c.8602G>T	XP_011538345.1:p.Val2868Phe
XM_011540044.1:c.8467G>T	XP_011538346.1:p.Val2823Phe
XM_011540045.1:c.8602G>T	XP_011538347.1:p.Val2868Phe
XM_011540046.1:c.8062G>T	XP_011538348.1:p.Val2688Phe
XM_011540047.1:c.7420G>T	XP_011538349.1:p.Val2474Phe
XM_011540052.1:c.4930G>T	XP_011538354.1:p.Val1644Phe
NM_022124.6:c.8407G>T MANE Select	NP_071407.4:p.Val2803Phe