Canonical Allele Identifier: CA377162318

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1418812
• ClinVar RCV Id: RCV001940525
• dbSNP Id: rs1396652775
• gnomAD v2: 10-73565944-A-G
• gnomAD v3: 10-71806187-A-G
• gnomAD v4: 10-71806187-A-G
• MyVariant Identifiers: chr10:g.73565944A>G (hg19) ; chr10:g.71806187A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71806187A>G , CM000672.2:g.71806187A>G	GRCh38
NC_000010.10:g.73565944A>G , CM000672.1:g.73565944A>G	GRCh37
NC_000010.9:g.73235950A>G	NCBI36
NG_008835.1:g.414241A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8084A>G MANE Select	ENSP00000224721.9:p.Asp2695Gly
ENST00000642965.1:c.2017A>G	ENSP00000495222.1:n.2017A>G
ENST00000647092.1:c.1681A>G	ENSP00000495176.1:n.1681A>G
ENST00000224721.10:c.8099A>G	ENSP00000224721.8:p.Asp2700Gly
ENST00000398788.4:c.1364A>G	ENSP00000381768.3:p.Asp455Gly
ENST00000475158.1:n.1620A>G
ENST00000619887.4:c.1364A>G	ENSP00000478374.1:p.Asp455Gly
ENST00000622827.4:c.8084A>G	ENSP00000483211.1:p.Asp2695Gly
NM_001171933.1:c.1364A>G	NP_001165404.1:p.Asp455Gly
NM_001171934.1:c.1364A>G	NP_001165405.1:p.Asp455Gly
NM_022124.5:c.8084A>G	NP_071407.4:p.Asp2695Gly
XM_006717940.2:c.8279A>G	XP_006718003.1:p.Asp2760Gly
XM_006717942.2:c.8213A>G	XP_006718005.1:p.Asp2738Gly
XM_011540039.1:c.8276A>G	XP_011538341.1:p.Asp2759Gly
XM_011540040.1:c.8273A>G	XP_011538342.1:p.Asp2758Gly
XM_011540041.1:c.8219A>G	XP_011538343.1:p.Asp2740Gly
XM_011540042.1:c.8189A>G	XP_011538344.1:p.Asp2730Gly
XM_011540043.1:c.8279A>G	XP_011538345.1:p.Asp2760Gly
XM_011540044.1:c.8144A>G	XP_011538346.1:p.Asp2715Gly
XM_011540045.1:c.8279A>G	XP_011538347.1:p.Asp2760Gly
XM_011540046.1:c.7739A>G	XP_011538348.1:p.Asp2580Gly
XM_011540047.1:c.7097A>G	XP_011538349.1:p.Asp2366Gly
XM_011540052.1:c.4607A>G	XP_011538354.1:p.Asp1536Gly
NM_022124.6:c.8084A>G MANE Select	NP_071407.4:p.Asp2695Gly