Canonical Allele Identifier: CA5546647

Gene: CDH23

Linked Data

• dbSNP Id: rs369697366
• ExAC: 10:73567371 G / C
• gnomAD v2: 10-73567371-G-C
• gnomAD v4: 10-71807614-G-C
• MyVariant Identifiers: chr10:g.73567371G>C (hg19) ; chr10:g.71807614G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8407G>C MANE Select	ENSP00000224721.9:p.Val2803Leu
ENST00000642965.1:c.2340G>C	ENSP00000495222.1:n.2340G>C
ENST00000647092.1:c.2004G>C	ENSP00000495176.1:n.2004G>C
ENST00000224721.10:c.8422G>C	ENSP00000224721.8:p.Val2808Leu
ENST00000398788.4:c.1687G>C	ENSP00000381768.3:p.Val563Leu
ENST00000475158.1:n.1943G>C
ENST00000619887.4:c.1687G>C	ENSP00000478374.1:p.Val563Leu
ENST00000622827.4:c.8407G>C	ENSP00000483211.1:p.Val2803Leu
NM_001171933.1:c.1687G>C	NP_001165404.1:p.Val563Leu
NM_001171934.1:c.1687G>C	NP_001165405.1:p.Val563Leu
NM_022124.5:c.8407G>C	NP_071407.4:p.Val2803Leu
XM_006717940.2:c.8602G>C	XP_006718003.1:p.Val2868Leu
XM_006717942.2:c.8536G>C	XP_006718005.1:p.Val2846Leu
XM_011540039.1:c.8599G>C	XP_011538341.1:p.Val2867Leu
XM_011540040.1:c.8596G>C	XP_011538342.1:p.Val2866Leu
XM_011540041.1:c.8542G>C	XP_011538343.1:p.Val2848Leu
XM_011540042.1:c.8512G>C	XP_011538344.1:p.Val2838Leu
XM_011540043.1:c.8602G>C	XP_011538345.1:p.Val2868Leu
XM_011540044.1:c.8467G>C	XP_011538346.1:p.Val2823Leu
XM_011540045.1:c.8602G>C	XP_011538347.1:p.Val2868Leu
XM_011540046.1:c.8062G>C	XP_011538348.1:p.Val2688Leu
XM_011540047.1:c.7420G>C	XP_011538349.1:p.Val2474Leu
XM_011540052.1:c.4930G>C	XP_011538354.1:p.Val1644Leu
NM_022124.6:c.8407G>C MANE Select	NP_071407.4:p.Val2803Leu