Canonical Allele Identifier: CA377157778

Gene: CDH23

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6877T>C MANE Select	ENSP00000224721.9:p.Phe2293Leu
ENST00000642965.1:c.810T>C	ENSP00000495222.1:n.810T>C
ENST00000647092.1:c.474T>C	ENSP00000495176.1:n.474T>C
ENST00000224721.10:c.6892T>C	ENSP00000224721.8:p.Phe2298Leu
ENST00000398788.4:c.157T>C	ENSP00000381768.3:p.Phe53Leu
ENST00000475158.1:n.413T>C
ENST00000619887.4:c.157T>C	ENSP00000478374.1:p.Phe53Leu
ENST00000622827.4:c.6877T>C	ENSP00000483211.1:p.Phe2293Leu
NM_001171933.1:c.157T>C	NP_001165404.1:p.Phe53Leu
NM_001171934.1:c.157T>C	NP_001165405.1:p.Phe53Leu
NM_022124.5:c.6877T>C	NP_071407.4:p.Phe2293Leu
XM_006717940.2:c.7072T>C	XP_006718003.1:p.Phe2358Leu
XM_006717942.2:c.7006T>C	XP_006718005.1:p.Phe2336Leu
XM_011540039.1:c.7069T>C	XP_011538341.1:p.Phe2357Leu
XM_011540040.1:c.7066T>C	XP_011538342.1:p.Phe2356Leu
XM_011540041.1:c.7012T>C	XP_011538343.1:p.Phe2338Leu
XM_011540042.1:c.6982T>C	XP_011538344.1:p.Phe2328Leu
XM_011540043.1:c.7072T>C	XP_011538345.1:p.Phe2358Leu
XM_011540044.1:c.6937T>C	XP_011538346.1:p.Phe2313Leu
XM_011540045.1:c.7072T>C	XP_011538347.1:p.Phe2358Leu
XM_011540046.1:c.6532T>C	XP_011538348.1:p.Phe2178Leu
XM_011540047.1:c.5890T>C	XP_011538349.1:p.Phe1964Leu
XM_011540052.1:c.3400T>C	XP_011538354.1:p.Phe1134Leu
NM_022124.6:c.6877T>C MANE Select	NP_071407.4:p.Phe2293Leu