Canonical Allele Identifier: CA377157779

Gene: CDH23

Linked Data

• dbSNP Id: rs1329210385
• gnomAD v2: 10-73558158-T-G
• gnomAD v4: 10-71798401-T-G
• MyVariant Identifiers: chr10:g.73558158T>G (hg19) ; chr10:g.71798401T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798401T>G , CM000672.2:g.71798401T>G	GRCh38
NC_000010.10:g.73558158T>G , CM000672.1:g.73558158T>G	GRCh37
NC_000010.9:g.73228164T>G	NCBI36
NG_008835.1:g.406455T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6877T>G MANE Select	ENSP00000224721.9:p.Phe2293Val
ENST00000642965.1:c.810T>G	ENSP00000495222.1:n.810T>G
ENST00000647092.1:c.474T>G	ENSP00000495176.1:n.474T>G
ENST00000224721.10:c.6892T>G	ENSP00000224721.8:p.Phe2298Val
ENST00000398788.4:c.157T>G	ENSP00000381768.3:p.Phe53Val
ENST00000475158.1:n.413T>G
ENST00000619887.4:c.157T>G	ENSP00000478374.1:p.Phe53Val
ENST00000622827.4:c.6877T>G	ENSP00000483211.1:p.Phe2293Val
NM_001171933.1:c.157T>G	NP_001165404.1:p.Phe53Val
NM_001171934.1:c.157T>G	NP_001165405.1:p.Phe53Val
NM_022124.5:c.6877T>G	NP_071407.4:p.Phe2293Val
XM_006717940.2:c.7072T>G	XP_006718003.1:p.Phe2358Val
XM_006717942.2:c.7006T>G	XP_006718005.1:p.Phe2336Val
XM_011540039.1:c.7069T>G	XP_011538341.1:p.Phe2357Val
XM_011540040.1:c.7066T>G	XP_011538342.1:p.Phe2356Val
XM_011540041.1:c.7012T>G	XP_011538343.1:p.Phe2338Val
XM_011540042.1:c.6982T>G	XP_011538344.1:p.Phe2328Val
XM_011540043.1:c.7072T>G	XP_011538345.1:p.Phe2358Val
XM_011540044.1:c.6937T>G	XP_011538346.1:p.Phe2313Val
XM_011540045.1:c.7072T>G	XP_011538347.1:p.Phe2358Val
XM_011540046.1:c.6532T>G	XP_011538348.1:p.Phe2178Val
XM_011540047.1:c.5890T>G	XP_011538349.1:p.Phe1964Val
XM_011540052.1:c.3400T>G	XP_011538354.1:p.Phe1134Val
NM_022124.6:c.6877T>G MANE Select	NP_071407.4:p.Phe2293Val