Canonical Allele Identifier: CA137556

Gene: CDH23

Linked Data

• ClinVar Variation Id: 46022
• ClinVar RCV Id: RCV000039258 ; RCV000881386 ; RCV001108605 ; RCV001107989 ; RCV001831672
• dbSNP Id: rs146819206
• ExAC: 10:73558199 G / A
• gnomAD v2: 10-73558199-G-A
• gnomAD v3: 10-71798442-G-A
• gnomAD v4: 10-71798442-G-A
• MyVariant Identifiers: chr10:g.73558199G>A (hg19) ; chr10:g.71798442G>A (hg38)
• PubMed: PMID:12075507 ; PMID:18429043

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798442G>A , CM000672.2:g.71798442G>A	GRCh38
NC_000010.10:g.73558199G>A , CM000672.1:g.73558199G>A	GRCh37
NC_000010.9:g.73228205G>A	NCBI36
NG_008835.1:g.406496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6918G>A MANE Select	ENSP00000224721.9:p.Leu2306=
ENST00000642965.1:c.851G>A	ENSP00000495222.1:n.851G>A
ENST00000647092.1:c.515G>A	ENSP00000495176.1:n.515G>A
ENST00000224721.10:c.6933G>A	ENSP00000224721.8:p.Leu2311=
ENST00000398788.4:c.198G>A	ENSP00000381768.3:p.Leu66=
ENST00000475158.1:n.454G>A
ENST00000619887.4:c.198G>A	ENSP00000478374.1:p.Leu66=
ENST00000622827.4:c.6918G>A	ENSP00000483211.1:p.Leu2306=
NM_001171933.1:c.198G>A	NP_001165404.1:p.Leu66=
NM_001171934.1:c.198G>A	NP_001165405.1:p.Leu66=
NM_022124.5:c.6918G>A	NP_071407.4:p.Leu2306=
XM_006717940.2:c.7113G>A	XP_006718003.1:p.Leu2371=
XM_006717942.2:c.7047G>A	XP_006718005.1:p.Leu2349=
XM_011540039.1:c.7110G>A	XP_011538341.1:p.Leu2370=
XM_011540040.1:c.7107G>A	XP_011538342.1:p.Leu2369=
XM_011540041.1:c.7053G>A	XP_011538343.1:p.Leu2351=
XM_011540042.1:c.7023G>A	XP_011538344.1:p.Leu2341=
XM_011540043.1:c.7113G>A	XP_011538345.1:p.Leu2371=
XM_011540044.1:c.6978G>A	XP_011538346.1:p.Leu2326=
XM_011540045.1:c.7113G>A	XP_011538347.1:p.Leu2371=
XM_011540046.1:c.6573G>A	XP_011538348.1:p.Leu2191=
XM_011540047.1:c.5931G>A	XP_011538349.1:p.Leu1977=
XM_011540052.1:c.3441G>A	XP_011538354.1:p.Leu1147=
NM_022124.6:c.6918G>A MANE Select	NP_071407.4:p.Leu2306=