Canonical Allele Identifier: CA247415

Gene: CDH23

Linked Data

• ClinVar Variation Id: 198641
• ClinVar RCV Id: RCV000180037 ; RCV000844911 ; RCV001833093 ; RCV004537499
• dbSNP Id: rs562525508
• ExAC: 10:73575006 G / C
• gnomAD v2: 10-73575006-G-C
• gnomAD v3: 10-71815249-G-C
• gnomAD v4: 10-71815249-G-C
• MyVariant Identifiers: chr10:g.73575006G>C (hg19) ; chr10:g.71815249G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71815249G>C , CM000672.2:g.71815249G>C	GRCh38
NC_000010.10:g.73575006G>C , CM000672.1:g.73575006G>C	GRCh37
NC_000010.9:g.73245012G>C	NCBI36
NG_008835.1:g.423303G>C
NG_009301.1:g.41077C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.10036G>C MANE Select	ENSP00000224721.9:p.Glu3346Gln
ENST00000642965.1:c.3969G>C	ENSP00000495222.1:n.3969G>C
ENST00000647092.1:c.3528G>C	ENSP00000495176.1:n.3528G>C
ENST00000224721.10:c.10051G>C	ENSP00000224721.8:p.Glu3351Gln
ENST00000398788.4:c.3316G>C	ENSP00000381768.3:p.Glu1106Gln
ENST00000475158.1:n.3467G>C
ENST00000619887.4:c.3211G>C	ENSP00000478374.1:p.Glu1071Gln
ENST00000622827.4:c.10036G>C	ENSP00000483211.1:p.Glu3346Gln
NM_001171933.1:c.3316G>C	NP_001165404.1:p.Glu1106Gln
NM_001171934.1:c.3211G>C	NP_001165405.1:p.Glu1071Gln
NM_001171935.1:c.727G>C	NP_001165406.1:p.Glu243Gln
NM_001171936.1:c.622G>C	NP_001165407.1:p.Glu208Gln
NM_022124.5:c.10036G>C	NP_071407.4:p.Glu3346Gln
XM_006717940.2:c.10231G>C	XP_006718003.1:p.Glu3411Gln
XM_006717942.2:c.10165G>C	XP_006718005.1:p.Glu3389Gln
XM_011540039.1:c.10228G>C	XP_011538341.1:p.Glu3410Gln
XM_011540040.1:c.10225G>C	XP_011538342.1:p.Glu3409Gln
XM_011540041.1:c.10171G>C	XP_011538343.1:p.Glu3391Gln
XM_011540042.1:c.10141G>C	XP_011538344.1:p.Glu3381Gln
XM_011540043.1:c.10126G>C	XP_011538345.1:p.Glu3376Gln
XM_011540044.1:c.10096G>C	XP_011538346.1:p.Glu3366Gln
XM_011540046.1:c.9691G>C	XP_011538348.1:p.Glu3231Gln
XM_011540047.1:c.9049G>C	XP_011538349.1:p.Glu3017Gln
XM_011540052.1:c.6559G>C	XP_011538354.1:p.Glu2187Gln
NM_022124.6:c.10036G>C MANE Select	NP_071407.4:p.Glu3346Gln