Canonical Allele Identifier: CA377127762

Gene: CDH23

Linked Data

• ClinVar Variation Id: 839894
• ClinVar RCV Id: RCV001041755
• dbSNP Id: rs1862826814
• MyVariant Identifiers: chr10:g.73405678A>G (hg19) ; chr10:g.71645921A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71645921A>G , CM000672.2:g.71645921A>G	GRCh38
NC_000010.10:g.73405678A>G , CM000672.1:g.73405678A>G	GRCh37
NC_000010.9:g.73075684A>G	NCBI36
NG_008835.1:g.253975A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.1231A>G MANE Select	ENSP00000224721.9:p.Ile411Val
ENST00000398809.9:c.1231A>G	ENSP00000381789.5:p.Ile411Val
ENST00000442677.4:c.1231A>G	ENSP00000388894.3:p.Ile411Val
ENST00000466757.8:c.662A>G
ENST00000643732.1:n.1067A>G
ENST00000646131.1:c.895A>G	ENSP00000495098.1:p.Ile299Val
ENST00000224721.10:c.1246A>G	ENSP00000224721.8:p.Ile416Val
ENST00000299366.11:c.1231A>G	ENSP00000299366.8:p.Ile411Val
ENST00000398809.8:c.1231A>G	ENSP00000381789.5:p.Ile411Val
ENST00000398842.7:c.976A>G	ENSP00000381822.4:p.Ile326Val
ENST00000442677.3:c.6A>G
ENST00000461841.7:c.1231A>G	ENSP00000473454.2:p.Ile411Val
ENST00000466757.7:c.662A>G
ENST00000470494.5:c.200A>G
ENST00000616684.4:c.1231A>G	ENSP00000482036.2:p.Ile411Val
ENST00000622827.4:c.1231A>G	ENSP00000483211.1:p.Ile411Val
NM_001171930.1:c.1231A>G	NP_001165401.1:p.Ile411Val
NM_001171931.1:c.1231A>G	NP_001165402.1:p.Ile411Val
NM_022124.5:c.1231A>G	NP_071407.4:p.Ile411Val
NM_052836.3:c.1231A>G	NP_443068.1:p.Ile411Val
XM_006717940.2:c.1426A>G	XP_006718003.1:p.Ile476Val
XM_006717942.2:c.1360A>G	XP_006718005.1:p.Ile454Val
XM_011540039.1:c.1426A>G	XP_011538341.1:p.Ile476Val
XM_011540040.1:c.1420A>G	XP_011538342.1:p.Ile474Val
XM_011540041.1:c.1366A>G	XP_011538343.1:p.Ile456Val
XM_011540042.1:c.1426A>G	XP_011538344.1:p.Ile476Val
XM_011540043.1:c.1426A>G	XP_011538345.1:p.Ile476Val
XM_011540044.1:c.1291A>G	XP_011538346.1:p.Ile431Val
XM_011540045.1:c.1426A>G	XP_011538347.1:p.Ile476Val
XM_011540046.1:c.886A>G	XP_011538348.1:p.Ile296Val
XM_011540047.1:c.244A>G	XP_011538349.1:p.Ile82Val
XM_011540048.1:c.1426A>G	XP_011538350.1:p.Ile476Val
XM_011540049.1:c.1426A>G	XP_011538351.1:p.Ile476Val
XM_011540050.1:c.1426A>G	XP_011538352.1:p.Ile476Val
XM_011540051.1:c.1426A>G	XP_011538353.1:p.Ile476Val
XM_011540053.1:c.1426A>G	XP_011538355.1:p.Ile476Val
XM_011540054.1:c.1366A>G	XP_011538356.1:p.Ile456Val
XR_945796.1:n.1669A>G
NM_001171930.2:c.1231A>G	NP_001165401.1:p.Ile411Val
NM_001171931.2:c.1231A>G	NP_001165402.1:p.Ile411Val
NM_022124.6:c.1231A>G MANE Select	NP_071407.4:p.Ile411Val
NM_052836.4:c.1231A>G	NP_443068.1:p.Ile411Val