Canonical Allele Identifier: CA7109279
Gene: CDH24 HGNC NCBI
ClinVar RCV:
RCV004074194
ClinVar Variation:
2206645
dbSNP:
775956527
gnomAD v2:
14:23521292 C / T
gnomAD v3:
14:23052083 C / T
gnomAD v4:
chr14-23052083-C-T
Joint Max Group AF 0.0000448 (AFR)
Genomes Max Group AF 0.0000192 (AFR)
Exomes Max Group AF 0.0000426 (AFR)
MyVariant.info:
GRCh38 chr14:g.23052083C>T
GRCh37 chr14:g.23521292C>T
Revel Score:
ENST00000397359 0.076
ENST00000267383 0.076
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23052083C>T , CM000676.2:g.23052083C>T GRCh38
NC_000014.8:g.23521292C>T , CM000676.1:g.23521292C>T GRCh37
NC_000014.7:g.22591132C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000487137.7:c.1363+390G>A MANE Select ENSP00000434821.2:n.1363+390G>A
ENST00000267383.5:c.1364G>A ENSP00000267383.5:p.Gly455Asp
ENST00000397359.7:c.1364G>A ENSP00000380517.3:p.Gly455Asp
ENST00000487137.6:c.1363+390G>A ENSP00000434821.2:n.1363+390G>A
ENST00000554034.5:c.1363+390G>A ENSP00000452493.1:n.1363+390G>A
ENST00000610348.1:c.418-3029G>A ENSP00000478078.1:n.418-3029G>A
NM_022478.3:c.1364G>A NP_071923.2:p.Gly455Asp
NM_144985.3:c.1363+390G>A NP_659422.2:n.1363+390G>A
XM_011537088.1:c.1364G>A XP_011535390.1:p.Gly455Asp
XM_011537089.1:c.1364G>A XP_011535391.1:p.Gly455Asp
XM_011537090.1:c.1363+390G>A XP_011535392.1:n.1363+390G>A
NM_022478.4:c.1364G>A NP_071923.2:p.Gly455Asp
NM_144985.4:c.1363+390G>A MANE Select NP_659422.2:n.1363+390G>A
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