Canonical Allele Identifier: CA15778497
Gene: CCDC122 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.43859494C>A
GRCh37 chr13:g.44433630C>A
gnomAD v2:
13:44433630 C / A
gnomAD v3:
13:43859494 C / A
gnomAD v4:
chr13-43859494-C-A
Joint Max Group AF 0.23412536 (EAS)
Genomes Max Group AF 0.23412536 (EAS)
ClinVar RCV:
RCV002291815
ClinVar Variation:
1710528
dbSNP:
3088362
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.43859494C>A , CM000675.2:g.43859494C>A GRCh38
NC_000013.10:g.44433630C>A , CM000675.1:g.44433630C>A GRCh37
NC_000013.9:g.43331630C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000444614.8:c.555+178G>T MANE Select ENSP00000407763.2:n.555+178G>T
ENST00000444614.7:c.555+178G>T ENSP00000407763.2:n.555+178G>T
ENST00000470137.5:n.484+178G>T
ENST00000476570.2:n.815+178G>T
NM_144974.3:c.555+178G>T NP_659411.2:n.555+178G>T
XM_011534943.1:c.555+178G>T XP_011533245.1:n.555+178G>T
XM_011534944.1:c.555+178G>T XP_011533246.1:n.555+178G>T
XM_011534945.1:c.555+178G>T XP_011533247.1:n.555+178G>T
NM_001350617.1:c.192+178G>T NP_001337546.1:n.192+178G>T
NM_001350618.1:c.192+178G>T NP_001337547.1:n.192+178G>T
NM_144974.4:c.555+178G>T NP_659411.2:n.555+178G>T
XM_017020397.2:c.555+178G>T XP_016875886.1:n.555+178G>T
XM_017020398.1:c.555+178G>T XP_016875887.1:n.555+178G>T
XM_017020399.1:c.555+178G>T XP_016875888.1:n.555+178G>T
XM_024449322.1:c.192+178G>T XP_024305090.1:n.192+178G>T
XM_024449323.1:c.192+178G>T XP_024305091.1:n.192+178G>T
XM_024449324.1:c.192+178G>T XP_024305092.1:n.192+178G>T
XM_024449325.1:c.192+178G>T XP_024305093.1:n.192+178G>T
XM_024449326.1:c.192+178G>T XP_024305094.1:n.192+178G>T
XM_024449327.1:c.192+178G>T XP_024305095.1:n.192+178G>T
NM_144974.5:c.555+178G>T MANE Select NP_659411.2:n.555+178G>T
NM_001350617.2:c.192+178G>T NP_001337546.1:n.192+178G>T
NM_001350618.2:c.192+178G>T NP_001337547.1:n.192+178G>T
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