Canonical Allele Identifier: CA377131460

Gene: CDH23

Linked Data

• dbSNP Id: rs1841771670
• gnomAD v3: 10-71807603-T-C
• gnomAD v4: 10-71807603-T-C
• MyVariant Identifiers: chr10:g.73567360T>C (hg19) ; chr10:g.71807603T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807603T>C , CM000672.2:g.71807603T>C	GRCh38
NC_000010.10:g.73567360T>C , CM000672.1:g.73567360T>C	GRCh37
NC_000010.9:g.73237366T>C	NCBI36
NG_008835.1:g.415657T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8396T>C MANE Select	ENSP00000224721.9:p.Phe2799Ser
ENST00000642965.1:c.2329T>C	ENSP00000495222.1:n.2329T>C
ENST00000647092.1:c.1993T>C	ENSP00000495176.1:n.1993T>C
ENST00000224721.10:c.8411T>C	ENSP00000224721.8:p.Phe2804Ser
ENST00000398788.4:c.1676T>C	ENSP00000381768.3:p.Phe559Ser
ENST00000475158.1:n.1932T>C
ENST00000619887.4:c.1676T>C	ENSP00000478374.1:p.Phe559Ser
ENST00000622827.4:c.8396T>C	ENSP00000483211.1:p.Phe2799Ser
NM_001171933.1:c.1676T>C	NP_001165404.1:p.Phe559Ser
NM_001171934.1:c.1676T>C	NP_001165405.1:p.Phe559Ser
NM_022124.5:c.8396T>C	NP_071407.4:p.Phe2799Ser
XM_006717940.2:c.8591T>C	XP_006718003.1:p.Phe2864Ser
XM_006717942.2:c.8525T>C	XP_006718005.1:p.Phe2842Ser
XM_011540039.1:c.8588T>C	XP_011538341.1:p.Phe2863Ser
XM_011540040.1:c.8585T>C	XP_011538342.1:p.Phe2862Ser
XM_011540041.1:c.8531T>C	XP_011538343.1:p.Phe2844Ser
XM_011540042.1:c.8501T>C	XP_011538344.1:p.Phe2834Ser
XM_011540043.1:c.8591T>C	XP_011538345.1:p.Phe2864Ser
XM_011540044.1:c.8456T>C	XP_011538346.1:p.Phe2819Ser
XM_011540045.1:c.8591T>C	XP_011538347.1:p.Phe2864Ser
XM_011540046.1:c.8051T>C	XP_011538348.1:p.Phe2684Ser
XM_011540047.1:c.7409T>C	XP_011538349.1:p.Phe2470Ser
XM_011540052.1:c.4919T>C	XP_011538354.1:p.Phe1640Ser
NM_022124.6:c.8396T>C MANE Select	NP_071407.4:p.Phe2799Ser