Canonical Allele Identifier: CA470061947

Gene: CDH23

Linked Data

• dbSNP Id: rs1178851873
• gnomAD v2: 10-73558130-C-T
• gnomAD v4: 10-71798373-C-T
• MyVariant Identifiers: chr10:g.73558130C>T (hg19) ; chr10:g.71798373C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798373C>T , CM000672.2:g.71798373C>T	GRCh38
NC_000010.10:g.73558130C>T , CM000672.1:g.73558130C>T	GRCh37
NC_000010.9:g.73228136C>T	NCBI36
NG_008835.1:g.406427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6849C>T MANE Select	ENSP00000224721.9:p.Val2283=
ENST00000642965.1:c.782C>T	ENSP00000495222.1:n.782C>T
ENST00000647092.1:c.446C>T	ENSP00000495176.1:n.446C>T
ENST00000224721.10:c.6864C>T	ENSP00000224721.8:p.Val2288=
ENST00000398788.4:c.129C>T	ENSP00000381768.3:p.Val43=
ENST00000475158.1:n.385C>T
ENST00000619887.4:c.129C>T	ENSP00000478374.1:p.Val43=
ENST00000622827.4:c.6849C>T	ENSP00000483211.1:p.Val2283=
NM_001171933.1:c.129C>T	NP_001165404.1:p.Val43=
NM_001171934.1:c.129C>T	NP_001165405.1:p.Val43=
NM_022124.5:c.6849C>T	NP_071407.4:p.Val2283=
XM_006717940.2:c.7044C>T	XP_006718003.1:p.Val2348=
XM_006717942.2:c.6978C>T	XP_006718005.1:p.Val2326=
XM_011540039.1:c.7041C>T	XP_011538341.1:p.Val2347=
XM_011540040.1:c.7038C>T	XP_011538342.1:p.Val2346=
XM_011540041.1:c.6984C>T	XP_011538343.1:p.Val2328=
XM_011540042.1:c.6954C>T	XP_011538344.1:p.Val2318=
XM_011540043.1:c.7044C>T	XP_011538345.1:p.Val2348=
XM_011540044.1:c.6909C>T	XP_011538346.1:p.Val2303=
XM_011540045.1:c.7044C>T	XP_011538347.1:p.Val2348=
XM_011540046.1:c.6504C>T	XP_011538348.1:p.Val2168=
XM_011540047.1:c.5862C>T	XP_011538349.1:p.Val1954=
XM_011540052.1:c.3372C>T	XP_011538354.1:p.Val1124=
NM_022124.6:c.6849C>T MANE Select	NP_071407.4:p.Val2283=