Canonical Allele Identifier: CA470060757

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1080643
• ClinVar RCV Id: RCV001396362
• dbSNP Id: rs2132939313
• gnomAD v4: 10-71785010-G-C
• MyVariant Identifiers: chr10:g.73544767G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71785010G>C , CM000672.2:g.71785010G>C	GRCh38
NC_000010.10:g.73544767G>C , CM000672.1:g.73544767G>C	GRCh37
NC_000010.9:g.73214773G>C	NCBI36
NG_008835.1:g.393064G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.5622G>C MANE Select	ENSP00000224721.9:p.Leu1874=
ENST00000224721.10:c.5637G>C	ENSP00000224721.8:p.Leu1879=
ENST00000622827.4:c.5622G>C	ENSP00000483211.1:p.Leu1874=
NM_022124.5:c.5622G>C	NP_071407.4:p.Leu1874=
XM_006717940.2:c.5817G>C	XP_006718003.1:p.Leu1939=
XM_006717942.2:c.5751G>C	XP_006718005.1:p.Leu1917=
XM_011540039.1:c.5814G>C	XP_011538341.1:p.Leu1938=
XM_011540040.1:c.5811G>C	XP_011538342.1:p.Leu1937=
XM_011540041.1:c.5757G>C	XP_011538343.1:p.Leu1919=
XM_011540042.1:c.5817G>C	XP_011538344.1:p.Leu1939=
XM_011540043.1:c.5817G>C	XP_011538345.1:p.Leu1939=
XM_011540044.1:c.5682G>C	XP_011538346.1:p.Leu1894=
XM_011540045.1:c.5817G>C	XP_011538347.1:p.Leu1939=
XM_011540046.1:c.5277G>C	XP_011538348.1:p.Leu1759=
XM_011540047.1:c.4635G>C	XP_011538349.1:p.Leu1545=
XM_011540048.1:c.5817G>C	XP_011538350.1:p.Leu1939=
XM_011540049.1:c.5817G>C	XP_011538351.1:p.Leu1939=
XM_011540050.1:c.5817G>C	XP_011538352.1:p.Leu1939=
XM_011540051.1:c.5817G>C	XP_011538353.1:p.Leu1939=
XM_011540052.1:c.2145G>C	XP_011538354.1:p.Leu715=
XM_011540053.1:c.5817G>C	XP_011538355.1:p.Leu1939=
XR_945796.1:n.6060G>C
NM_022124.6:c.5622G>C MANE Select	NP_071407.4:p.Leu1874=