Canonical Allele Identifier: CA5145576
Gene: CCDC180 HGNC NCBI
SUGT1P4-STRA6LP-CCDC180 HGNC NCBI
COSMIC:
COSM4419483 (not active)
COSM4419484 (not active)
COSM4419485 (not active)
MyVariant.info:
GRCh38 chr9:g.97343500C>G
GRCh37 chr9:g.100105782C>G
Revel Score:
ENST00000357054 0.038
ENST00000375202 0.038
ENST00000411667 0.038
ENST00000541524 0.038
ENST00000529487 (MANE Select) 0.038
gnomAD v2:
9:100105782 C / G
gnomAD v3:
9:97343500 C / G
gnomAD v4:
chr9-97343500-C-G
Joint Max Group AF 0.41317854 (AFR)
Genomes Max Group AF 0.40973938 (AFR)
Exomes Max Group AF 0.41387099 (AFR)
ClinVar RCV:
RCV001679908
ClinVar Variation:
1268803
dbSNP:
2061634
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97343500C>G , CM000671.2:g.97343500C>G GRCh38
NC_000009.11:g.100105782C>G , CM000671.1:g.100105782C>G GRCh37
NC_000009.10:g.99145603C>G NCBI36
NG_052792.1:g.41197C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000529487.3:c.2435C>G (CCDC180) MANE Select ENSP00000434727.2:p.Ser812Cys
ENST00000460482.6:n.2769C>G (CCDC180)
ENST00000494917.6:n.2638C>G (CCDC180)
ENST00000528678.1:n.531C>G (CCDC180)
ENST00000529487.1:c.2567C>G (CCDC180) ENSP00000434727.1:p.Ser856Cys
ENST00000530011.1:n.236-5611C>G (CCDC180)
NM_020893.2:c.2567C>G (CCDC180) NP_065944.2:p.Ser856Cys
NR_036527.1:n.3990C>G (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3990C>G (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3550C>G (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2558C>G (CCDC180) NP_001334939.1:p.Ser853Cys
NM_020893.3:c.2567C>G (CCDC180) NP_065944.2:p.Ser856Cys
NM_001348010.2:c.2558C>G (CCDC180) NP_001334939.1:p.Ser853Cys
NM_020893.4:c.2567C>G (CCDC180) NP_065944.2:p.Ser856Cys
NM_001348010.4:c.2426C>G (CCDC180) NP_001334939.2:p.Ser809Cys
NM_020893.6:c.2435C>G (CCDC180) MANE Select NP_065944.3:p.Ser812Cys
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