Canonical Allele Identifier: CA377131493

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2038562
• ClinVar RCV Id: RCV002895050
• dbSNP Id: rs1841772448
• gnomAD v3: 10-71807620-G-C
• gnomAD v4: 10-71807620-G-C
• MyVariant Identifiers: chr10:g.73567377G>C (hg19) ; chr10:g.71807620G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807620G>C , CM000672.2:g.71807620G>C	GRCh38
NC_000010.10:g.73567377G>C , CM000672.1:g.73567377G>C	GRCh37
NC_000010.9:g.73237383G>C	NCBI36
NG_008835.1:g.415674G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8413G>C MANE Select	ENSP00000224721.9:p.Ala2805Pro
ENST00000642965.1:c.2346G>C	ENSP00000495222.1:n.2346G>C
ENST00000647092.1:c.2010G>C	ENSP00000495176.1:n.2010G>C
ENST00000224721.10:c.8428G>C	ENSP00000224721.8:p.Ala2810Pro
ENST00000398788.4:c.1693G>C	ENSP00000381768.3:p.Ala565Pro
ENST00000475158.1:n.1949G>C
ENST00000619887.4:c.1693G>C	ENSP00000478374.1:p.Ala565Pro
ENST00000622827.4:c.8413G>C	ENSP00000483211.1:p.Ala2805Pro
NM_001171933.1:c.1693G>C	NP_001165404.1:p.Ala565Pro
NM_001171934.1:c.1693G>C	NP_001165405.1:p.Ala565Pro
NM_022124.5:c.8413G>C	NP_071407.4:p.Ala2805Pro
XM_006717940.2:c.8608G>C	XP_006718003.1:p.Ala2870Pro
XM_006717942.2:c.8542G>C	XP_006718005.1:p.Ala2848Pro
XM_011540039.1:c.8605G>C	XP_011538341.1:p.Ala2869Pro
XM_011540040.1:c.8602G>C	XP_011538342.1:p.Ala2868Pro
XM_011540041.1:c.8548G>C	XP_011538343.1:p.Ala2850Pro
XM_011540042.1:c.8518G>C	XP_011538344.1:p.Ala2840Pro
XM_011540043.1:c.8608G>C	XP_011538345.1:p.Ala2870Pro
XM_011540044.1:c.8473G>C	XP_011538346.1:p.Ala2825Pro
XM_011540045.1:c.8608G>C	XP_011538347.1:p.Ala2870Pro
XM_011540046.1:c.8068G>C	XP_011538348.1:p.Ala2690Pro
XM_011540047.1:c.7426G>C	XP_011538349.1:p.Ala2476Pro
XM_011540052.1:c.4936G>C	XP_011538354.1:p.Ala1646Pro
NM_022124.6:c.8413G>C MANE Select	NP_071407.4:p.Ala2805Pro