Canonical Allele Identifier: CA377131468

Gene: CDH23

Linked Data

• dbSNP Id: rs1230947269
• gnomAD v4: 10-71807606-C-T
• MyVariant Identifiers: chr10:g.73567363C>T (hg19) ; chr10:g.71807606C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807606C>T , CM000672.2:g.71807606C>T	GRCh38
NC_000010.10:g.73567363C>T , CM000672.1:g.73567363C>T	GRCh37
NC_000010.9:g.73237369C>T	NCBI36
NG_008835.1:g.415660C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8399C>T MANE Select	ENSP00000224721.9:p.Ser2800Phe
ENST00000642965.1:c.2332C>T	ENSP00000495222.1:n.2332C>T
ENST00000647092.1:c.1996C>T	ENSP00000495176.1:n.1996C>T
ENST00000224721.10:c.8414C>T	ENSP00000224721.8:p.Ser2805Phe
ENST00000398788.4:c.1679C>T	ENSP00000381768.3:p.Ser560Phe
ENST00000475158.1:n.1935C>T
ENST00000619887.4:c.1679C>T	ENSP00000478374.1:p.Ser560Phe
ENST00000622827.4:c.8399C>T	ENSP00000483211.1:p.Ser2800Phe
NM_001171933.1:c.1679C>T	NP_001165404.1:p.Ser560Phe
NM_001171934.1:c.1679C>T	NP_001165405.1:p.Ser560Phe
NM_022124.5:c.8399C>T	NP_071407.4:p.Ser2800Phe
XM_006717940.2:c.8594C>T	XP_006718003.1:p.Ser2865Phe
XM_006717942.2:c.8528C>T	XP_006718005.1:p.Ser2843Phe
XM_011540039.1:c.8591C>T	XP_011538341.1:p.Ser2864Phe
XM_011540040.1:c.8588C>T	XP_011538342.1:p.Ser2863Phe
XM_011540041.1:c.8534C>T	XP_011538343.1:p.Ser2845Phe
XM_011540042.1:c.8504C>T	XP_011538344.1:p.Ser2835Phe
XM_011540043.1:c.8594C>T	XP_011538345.1:p.Ser2865Phe
XM_011540044.1:c.8459C>T	XP_011538346.1:p.Ser2820Phe
XM_011540045.1:c.8594C>T	XP_011538347.1:p.Ser2865Phe
XM_011540046.1:c.8054C>T	XP_011538348.1:p.Ser2685Phe
XM_011540047.1:c.7412C>T	XP_011538349.1:p.Ser2471Phe
XM_011540052.1:c.4922C>T	XP_011538354.1:p.Ser1641Phe
NM_022124.6:c.8399C>T MANE Select	NP_071407.4:p.Ser2800Phe