Canonical Allele Identifier: CA377151349

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1067318
• ClinVar RCV Id: RCV001378548
• dbSNP Id: rs111033247
• gnomAD v4: 10-71790414-G-T
• MyVariant Identifiers: chr10:g.73550171G>T (hg19) ; chr10:g.71790414G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71790414G>T , CM000672.2:g.71790414G>T	GRCh38
NC_000010.10:g.73550171G>T , CM000672.1:g.73550171G>T	GRCh37
NC_000010.9:g.73220177G>T	NCBI36
NG_008835.1:g.398468G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6049+1G>T MANE Select	ENSP00000224721.9:n.6049+1G>T
ENST00000224721.10:c.6064+1G>T	ENSP00000224721.8:n.6064+1G>T
ENST00000622827.4:c.6049+1G>T	ENSP00000483211.1:n.6049+1G>T
NM_022124.5:c.6049+1G>T	NP_071407.4:n.6049+1G>T
XM_006717940.2:c.6244+1G>T	XP_006718003.1:n.6244+1G>T
XM_006717942.2:c.6178+1G>T	XP_006718005.1:n.6178+1G>T
XM_011540039.1:c.6241+1G>T	XP_011538341.1:n.6241+1G>T
XM_011540040.1:c.6238+1G>T	XP_011538342.1:n.6238+1G>T
XM_011540041.1:c.6184+1G>T	XP_011538343.1:n.6184+1G>T
XM_011540042.1:c.6244+1G>T	XP_011538344.1:n.6244+1G>T
XM_011540043.1:c.6244+1G>T	XP_011538345.1:n.6244+1G>T
XM_011540044.1:c.6109+1G>T	XP_011538346.1:n.6109+1G>T
XM_011540045.1:c.6244+1G>T	XP_011538347.1:n.6244+1G>T
XM_011540046.1:c.5704+1G>T	XP_011538348.1:n.5704+1G>T
XM_011540047.1:c.5062+1G>T	XP_011538349.1:n.5062+1G>T
XM_011540048.1:c.6244+1G>T	XP_011538350.1:n.6244+1G>T
XM_011540049.1:c.6244+1G>T	XP_011538351.1:n.6244+1G>T
XM_011540050.1:c.6244+1G>T	XP_011538352.1:n.6244+1G>T
XM_011540051.1:c.6244+1G>T	XP_011538353.1:n.6244+1G>T
XM_011540052.1:c.2572+1G>T	XP_011538354.1:n.2572+1G>T
XR_945796.1:n.6487+1G>T
NM_022124.6:c.6049+1G>T MANE Select	NP_071407.4:n.6049+1G>T