Canonical Allele Identifier: CA377127825

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1714704
• ClinVar RCV Id: RCV002304393
• MyVariant Identifiers: chr10:g.73405711G>C (hg19) ; chr10:g.71645954G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71645954G>C , CM000672.2:g.71645954G>C	GRCh38
NC_000010.10:g.73405711G>C , CM000672.1:g.73405711G>C	GRCh37
NC_000010.9:g.73075717G>C	NCBI36
NG_008835.1:g.254008G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.1264G>C MANE Select	ENSP00000224721.9:p.Glu422Gln
ENST00000398809.9:c.1264G>C	ENSP00000381789.5:p.Glu422Gln
ENST00000442677.4:c.1264G>C	ENSP00000388894.3:p.Glu422Gln
ENST00000466757.8:c.695G>C
ENST00000643732.1:n.1100G>C
ENST00000646131.1:c.928G>C	ENSP00000495098.1:p.Glu310Gln
ENST00000224721.10:c.1279G>C	ENSP00000224721.8:p.Glu427Gln
ENST00000299366.11:c.1264G>C	ENSP00000299366.8:p.Glu422Gln
ENST00000398809.8:c.1264G>C	ENSP00000381789.5:p.Glu422Gln
ENST00000398842.7:c.1009G>C	ENSP00000381822.4:p.Glu337Gln
ENST00000442677.3:c.39G>C
ENST00000461841.7:c.1264G>C	ENSP00000473454.2:p.Glu422Gln
ENST00000466757.7:c.695G>C
ENST00000470494.5:c.233G>C
ENST00000616684.4:c.1264G>C	ENSP00000482036.2:p.Glu422Gln
ENST00000622827.4:c.1264G>C	ENSP00000483211.1:p.Glu422Gln
NM_001171930.1:c.1264G>C	NP_001165401.1:p.Glu422Gln
NM_001171931.1:c.1264G>C	NP_001165402.1:p.Glu422Gln
NM_022124.5:c.1264G>C	NP_071407.4:p.Glu422Gln
NM_052836.3:c.1264G>C	NP_443068.1:p.Glu422Gln
XM_006717940.2:c.1459G>C	XP_006718003.1:p.Glu487Gln
XM_006717942.2:c.1393G>C	XP_006718005.1:p.Glu465Gln
XM_011540039.1:c.1459G>C	XP_011538341.1:p.Glu487Gln
XM_011540040.1:c.1453G>C	XP_011538342.1:p.Glu485Gln
XM_011540041.1:c.1399G>C	XP_011538343.1:p.Glu467Gln
XM_011540042.1:c.1459G>C	XP_011538344.1:p.Glu487Gln
XM_011540043.1:c.1459G>C	XP_011538345.1:p.Glu487Gln
XM_011540044.1:c.1324G>C	XP_011538346.1:p.Glu442Gln
XM_011540045.1:c.1459G>C	XP_011538347.1:p.Glu487Gln
XM_011540046.1:c.919G>C	XP_011538348.1:p.Glu307Gln
XM_011540047.1:c.277G>C	XP_011538349.1:p.Glu93Gln
XM_011540048.1:c.1459G>C	XP_011538350.1:p.Glu487Gln
XM_011540049.1:c.1459G>C	XP_011538351.1:p.Glu487Gln
XM_011540050.1:c.1459G>C	XP_011538352.1:p.Glu487Gln
XM_011540051.1:c.1459G>C	XP_011538353.1:p.Glu487Gln
XM_011540053.1:c.1459G>C	XP_011538355.1:p.Glu487Gln
XM_011540054.1:c.1399G>C	XP_011538356.1:p.Glu467Gln
XR_945796.1:n.1702G>C
NM_001171930.2:c.1264G>C	NP_001165401.1:p.Glu422Gln
NM_001171931.2:c.1264G>C	NP_001165402.1:p.Glu422Gln
NM_022124.6:c.1264G>C MANE Select	NP_071407.4:p.Glu422Gln
NM_052836.4:c.1264G>C	NP_443068.1:p.Glu422Gln