Canonical Allele Identifier: CA354251183
Gene: CCDC14 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123956363C>T , CM000665.2:g.123956363C>T GRCh38
NC_000003.11:g.123675210C>T , CM000665.1:g.123675210C>T GRCh37
NC_000003.10:g.125157900C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000409697.8:c.151G>A MANE Select ENSP00000386866.4:p.Glu51Lys
ENST00000433542.7:c.151G>A ENSP00000395706.3:p.Glu51Lys
ENST00000310351.8:c.151G>A ENSP00000312031.5:p.Glu51Lys
ENST00000409657.5:c.194G>A ENSP00000386481.1:n.194G>A
ENST00000409697.7:c.151G>A ENSP00000386866.4:p.Glu51Lys
ENST00000417438.1:c.175-398G>A ENSP00000398148.1:n.175-398G>A
ENST00000433542.6:c.295G>A ENSP00000395706.2:p.Glu99Lys
ENST00000435910.5:c.147G>A
ENST00000438440.2:n.187G>A
ENST00000463996.1:n.65+4781G>A
ENST00000477268.5:n.238+4781G>A
ENST00000478956.1:n.508G>A
ENST00000483247.1:n.69+4781G>A
ENST00000485727.5:c.-3873G>A ENSP00000418002.1:n.-3873G>A
ENST00000488653.6:c.295G>A ENSP00000420180.3:p.Glu99Lys
ENST00000489746.5:c.-625G>A ENSP00000418403.1:n.-625G>A
ENST00000495381.5:n.639G>A
NM_001308317.1:c.-306G>A NP_001295246.1:n.-306G>A
NM_022757.4:c.295G>A NP_073594.4:p.Glu99Lys
XM_005247710.3:c.295G>A XP_005247767.1:p.Glu99Lys
XM_005247711.3:c.295G>A XP_005247768.1:p.Glu99Lys
XM_005247713.2:c.-227-398G>A XP_005247770.1:n.-227-398G>A
XM_005247714.2:c.-105+4781G>A XP_005247771.1:n.-105+4781G>A
XM_005247715.3:c.295G>A XP_005247772.1:p.Glu99Lys
XM_005247716.3:c.295G>A XP_005247773.1:p.Glu99Lys
XM_006713731.2:c.295G>A XP_006713794.1:p.Glu99Lys
XM_006713733.2:c.295G>A XP_006713796.1:p.Glu99Lys
XM_011513079.1:c.-1081G>A XP_011511381.1:n.-1081G>A
XM_011513080.1:c.-842G>A XP_011511382.1:n.-842G>A
XM_011513081.1:c.295G>A XP_011511383.1:p.Glu99Lys
XM_011513082.1:c.295G>A XP_011511384.1:p.Glu99Lys
NM_001308317.2:c.-306G>A NP_001295246.1:n.-306G>A
NM_001366335.1:c.151G>A MANE Select NP_001353264.1:p.Glu51Lys
NM_001366336.1:c.-105+4781G>A NP_001353265.1:n.-105+4781G>A
NM_001366337.1:c.-183G>A NP_001353266.1:n.-183G>A
NM_001366338.1:c.-105+4781G>A NP_001353267.1:n.-105+4781G>A
NM_001366339.1:c.13+377G>A NP_001353268.1:n.13+377G>A
NM_022757.5:c.151G>A NP_073594.5:p.Glu51Lys
XM_005247711.4:c.295G>A XP_005247768.1:p.Glu99Lys
XM_005247715.4:c.295G>A XP_005247772.1:p.Glu99Lys
XM_005247716.4:c.295G>A XP_005247773.1:p.Glu99Lys
XM_006713731.3:c.295G>A XP_006713794.1:p.Glu99Lys
XM_006713733.3:c.295G>A XP_006713796.1:p.Glu99Lys
XM_011513081.2:c.295G>A XP_011511383.1:p.Glu99Lys
XM_017007059.2:c.-4412G>A XP_016862548.1:n.-4412G>A
XM_017007061.1:c.-105+4781G>A XP_016862550.1:n.-105+4781G>A
XM_024453715.1:c.-842G>A XP_024309483.1:n.-842G>A
XR_001740237.1:n.389G>A