Canonical Allele Identifier: CA377158988
Community Standard Title: NM_022124.6(CDH23):c.7210C>T (p.Gln2404Ter)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71799266C>T , CM000672.2:g.71799266C>T GRCh38
NC_000010.10:g.73559023C>T , CM000672.1:g.73559023C>T GRCh37
NC_000010.9:g.73229029C>T NCBI36
NG_008835.1:g.407320C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.7210C>T MANE Select NP_071407.4:p.Gln2404Ter
ENST00000224721.12:c.7210C>T MANE Select ENSP00000224721.9:p.Gln2404Ter
NM_001171933.1:c.490C>T NP_001165404.1:p.Gln164Ter
NM_001171934.1:c.490C>T NP_001165405.1:p.Gln164Ter
NM_022124.5:c.7210C>T NP_071407.4:p.Gln2404Ter
ENST00000224721.10:c.7225C>T ENSP00000224721.8:p.Gln2409Ter
ENST00000398788.4:c.490C>T ENSP00000381768.3:p.Gln164Ter
ENST00000475158.1:n.746C>T
ENST00000619887.4:c.490C>T ENSP00000478374.1:p.Gln164Ter
ENST00000622827.4:c.7210C>T ENSP00000483211.1:p.Gln2404Ter
ENST00000642965.1:c.1143C>T ENSP00000495222.1:n.1143C>T
ENST00000647092.1:c.807C>T ENSP00000495176.1:n.807C>T
XM_006717940.2:c.7405C>T XP_006718003.1:p.Gln2469Ter
XM_006717942.2:c.7339C>T XP_006718005.1:p.Gln2447Ter
XM_011540039.1:c.7402C>T XP_011538341.1:p.Gln2468Ter
XM_011540040.1:c.7399C>T XP_011538342.1:p.Gln2467Ter
XM_011540041.1:c.7345C>T XP_011538343.1:p.Gln2449Ter
XM_011540042.1:c.7315C>T XP_011538344.1:p.Gln2439Ter
XM_011540043.1:c.7405C>T XP_011538345.1:p.Gln2469Ter
XM_011540044.1:c.7270C>T XP_011538346.1:p.Gln2424Ter
XM_011540045.1:c.7405C>T XP_011538347.1:p.Gln2469Ter
XM_011540046.1:c.6865C>T XP_011538348.1:p.Gln2289Ter
XM_011540047.1:c.6223C>T XP_011538349.1:p.Gln2075Ter
XM_011540052.1:c.3733C>T XP_011538354.1:p.Gln1245Ter