Canonical Allele Identifier: CA377131428

Gene: CDH23

Linked Data

• gnomAD v4: 10-71807587-G-C
• MyVariant Identifiers: chr10:g.73567344G>C (hg19) ; chr10:g.71807587G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807587G>C , CM000672.2:g.71807587G>C	GRCh38
NC_000010.10:g.73567344G>C , CM000672.1:g.73567344G>C	GRCh37
NC_000010.9:g.73237350G>C	NCBI36
NG_008835.1:g.415641G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8380G>C MANE Select	ENSP00000224721.9:p.Glu2794Gln
ENST00000642965.1:c.2313G>C	ENSP00000495222.1:n.2313G>C
ENST00000647092.1:c.1977G>C	ENSP00000495176.1:n.1977G>C
ENST00000224721.10:c.8395G>C	ENSP00000224721.8:p.Glu2799Gln
ENST00000398788.4:c.1660G>C	ENSP00000381768.3:p.Glu554Gln
ENST00000475158.1:n.1916G>C
ENST00000619887.4:c.1660G>C	ENSP00000478374.1:p.Glu554Gln
ENST00000622827.4:c.8380G>C	ENSP00000483211.1:p.Glu2794Gln
NM_001171933.1:c.1660G>C	NP_001165404.1:p.Glu554Gln
NM_001171934.1:c.1660G>C	NP_001165405.1:p.Glu554Gln
NM_022124.5:c.8380G>C	NP_071407.4:p.Glu2794Gln
XM_006717940.2:c.8575G>C	XP_006718003.1:p.Glu2859Gln
XM_006717942.2:c.8509G>C	XP_006718005.1:p.Glu2837Gln
XM_011540039.1:c.8572G>C	XP_011538341.1:p.Glu2858Gln
XM_011540040.1:c.8569G>C	XP_011538342.1:p.Glu2857Gln
XM_011540041.1:c.8515G>C	XP_011538343.1:p.Glu2839Gln
XM_011540042.1:c.8485G>C	XP_011538344.1:p.Glu2829Gln
XM_011540043.1:c.8575G>C	XP_011538345.1:p.Glu2859Gln
XM_011540044.1:c.8440G>C	XP_011538346.1:p.Glu2814Gln
XM_011540045.1:c.8575G>C	XP_011538347.1:p.Glu2859Gln
XM_011540046.1:c.8035G>C	XP_011538348.1:p.Glu2679Gln
XM_011540047.1:c.7393G>C	XP_011538349.1:p.Glu2465Gln
XM_011540052.1:c.4903G>C	XP_011538354.1:p.Glu1635Gln
NM_022124.6:c.8380G>C MANE Select	NP_071407.4:p.Glu2794Gln