Canonical Allele Identifier: CA374158699

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• gnomAD v4: 9-97343449-A-G
• COSMIC: COSM5875199 ; COSM5875200 ; COSM5875201
• MyVariant Identifiers: chr9:g.100105731A>G (hg19) ; chr9:g.97343449A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343449A>G , CM000671.2:g.97343449A>G	GRCh38
NC_000009.11:g.100105731A>G , CM000671.1:g.100105731A>G	GRCh37
NC_000009.10:g.99145552A>G	NCBI36
NG_052792.1:g.41146A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2384A>G (CCDC180) MANE Select	ENSP00000434727.2:p.His795Arg
ENST00000460482.6:n.2718A>G (CCDC180)
ENST00000494917.6:n.2587A>G (CCDC180)
ENST00000528678.1:n.480A>G (CCDC180)
ENST00000529487.1:c.2516A>G (CCDC180)	ENSP00000434727.1:p.His839Arg
ENST00000530011.1:n.236-5662A>G (CCDC180)
NM_020893.2:c.2516A>G (CCDC180)	NP_065944.2:p.His839Arg
NR_036527.1:n.3939A>G (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3939A>G (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3499A>G (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2507A>G (CCDC180)	NP_001334939.1:p.His836Arg
NM_020893.3:c.2516A>G (CCDC180)	NP_065944.2:p.His839Arg
NM_001348010.2:c.2507A>G (CCDC180)	NP_001334939.1:p.His836Arg
NM_020893.4:c.2516A>G (CCDC180)	NP_065944.2:p.His839Arg
NM_001348010.4:c.2375A>G (CCDC180)	NP_001334939.2:p.His792Arg
NM_020893.6:c.2384A>G (CCDC180) MANE Select	NP_065944.3:p.His795Arg