Canonical Allele Identifier: CA137590

Gene: CDH23

Linked Data

• ClinVar Variation Id: 46045
• ClinVar RCV Id: RCV000039281 ; RCV000725935 ; RCV001108161 ; RCV001108162 ; RCV001276044
• dbSNP Id: rs142857685
• ExAC: 10:73566027 G / C
• gnomAD v2: 10-73566027-G-C
• gnomAD v3: 10-71806270-G-C
• gnomAD v4: 10-71806270-G-C
• MyVariant Identifiers: chr10:g.73566027G>C (hg19) ; chr10:g.71806270G>C (hg38)
• PubMed: PMID:22607986

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71806270G>C , CM000672.2:g.71806270G>C	GRCh38
NC_000010.10:g.73566027G>C , CM000672.1:g.73566027G>C	GRCh37
NC_000010.9:g.73236033G>C	NCBI36
NG_008835.1:g.414324G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8167G>C MANE Select	ENSP00000224721.9:p.Val2723Leu
ENST00000642965.1:c.2100G>C	ENSP00000495222.1:n.2100G>C
ENST00000647092.1:c.1764G>C	ENSP00000495176.1:n.1764G>C
ENST00000224721.10:c.8182G>C	ENSP00000224721.8:p.Val2728Leu
ENST00000398788.4:c.1447G>C	ENSP00000381768.3:p.Val483Leu
ENST00000475158.1:n.1703G>C
ENST00000619887.4:c.1447G>C	ENSP00000478374.1:p.Val483Leu
ENST00000622827.4:c.8167G>C	ENSP00000483211.1:p.Val2723Leu
NM_001171933.1:c.1447G>C	NP_001165404.1:p.Val483Leu
NM_001171934.1:c.1447G>C	NP_001165405.1:p.Val483Leu
NM_022124.5:c.8167G>C	NP_071407.4:p.Val2723Leu
XM_006717940.2:c.8362G>C	XP_006718003.1:p.Val2788Leu
XM_006717942.2:c.8296G>C	XP_006718005.1:p.Val2766Leu
XM_011540039.1:c.8359G>C	XP_011538341.1:p.Val2787Leu
XM_011540040.1:c.8356G>C	XP_011538342.1:p.Val2786Leu
XM_011540041.1:c.8302G>C	XP_011538343.1:p.Val2768Leu
XM_011540042.1:c.8272G>C	XP_011538344.1:p.Val2758Leu
XM_011540043.1:c.8362G>C	XP_011538345.1:p.Val2788Leu
XM_011540044.1:c.8227G>C	XP_011538346.1:p.Val2743Leu
XM_011540045.1:c.8362G>C	XP_011538347.1:p.Val2788Leu
XM_011540046.1:c.7822G>C	XP_011538348.1:p.Val2608Leu
XM_011540047.1:c.7180G>C	XP_011538349.1:p.Val2394Leu
XM_011540052.1:c.4690G>C	XP_011538354.1:p.Val1564Leu
NM_022124.6:c.8167G>C MANE Select	NP_071407.4:p.Val2723Leu